Home About us Contact
|
Home About us Contact | ||
|
|
||
Genetic Analysis (genetic + analysis)
Kinds of Genetic Analysis Terms modified by Genetic Analysis Selected AbstractsCOMPARATIVE GENOMIC AND POPULATION GENETIC ANALYSES INDICATE HIGHLY POROUS GENOMES AND HIGH LEVELS OF GENE FLOW BETWEEN DIVERGENT HELIANTHUS SPECIESEVOLUTION, Issue 8 2009Nolan C. Kane While speciation can be found in the presence of gene flow, it is not clear what impact this gene flow has on genome- and range-wide patterns of differentiation. Here we examine gene flow across the entire range of the common sunflower, H. annuus, its historically allopatric sister species H. argophyllus and a more distantly related, sympatric relative H. petiolaris. Analysis of genotypes at 26 microsatellite loci in 1015 individuals from across the range of the three species showed substantial introgression between geographically proximal populations of H. annuus and H. petiolaris, limited introgression between H. annuus and H. argophyllus, and essentially no gene flow between the allopatric pair, H. argophyllus and H. petiolaris. Analysis of sequence divergence levels among the three species in 1420 orthologs identified from EST databases identified a subset of loci showing extremely low divergence between H. annuus and H. petiolaris and extremely high divergence between the sister species H. annuus and H. argophyllus, consistent with introgression between H. annuus and H. petiolaris at these loci. Thus, at many loci, the allopatric sister species are more genetically divergent than the more distantly related sympatric species, which have exchanged genes across much of the genome while remaining morphologically and ecologically distinct. [source] GENETIC ANALYSIS OF A CHROMOSOMAL HYBRID ZONE IN THE AUSTRALIAN MORABINE GRASSHOPPERS (VANDIEMENELLA, VIATICA SPECIES GROUP)EVOLUTION, Issue 1 2009Takeshi Kawakami Whether chromosomal rearrangements promote speciation by providing barriers to gene exchange between populations is one of the long-standing debates in evolutionary biology. This question can be addressed by studying patterns of gene flow and selection in hybrid zones between chromosomally diverse taxa. Here we present results of the first study of the genetic structure of a hybrid zone between chromosomal races of morabine grasshoppers Vandiemenella viatica, P24(XY) and viatica17, on Kangaroo Island, Australia. Chromosomal and 11 nuclear markers revealed a narrow hybrid zone with strong linkage disequilibrium and heterozygote deficits, most likely maintained by a balance between dispersal and selection. Widths and positions of clines for these markers are concordant and coincident, suggesting that selection is unlikely to be concentrated on a few chromosomes. In contrast, a mitochondrial marker showed a significantly wider cline with centre offset toward the P24(XY) side. We argue that the discordance between the mitochondrial and nuclear/chromosomal clines and overall asymmetry of the clines suggest a secondary origin of the contact zone and potential movement of the zone after contact. Genome-wide scans using many genetic markers and chromosomal mapping of these markers are needed to investigate whether chromosomal differences directly reduce gene flow after secondary contact. [source] Genetic Analyses of Meiotic Recombination in ArabidopsisJOURNAL OF INTEGRATIVE PLANT BIOLOGY, Issue 8 2007Asela J. Wijeratne Abstract Meiosis is essential for sexual reproduction and recombination is a critical step required for normal meiosis. Understanding the underlying molecular mechanisms that regulate recombination is important for medical, agricultural and ecological reasons. Readily available molecular and cytological tools make Arabidopsis an excellent system to study meiosis. Here we review recent developments in molecular genetic analyses on meiotic recombination. These include studies on plant homologs of yeast and animal genes, as well as novel genes that were first identified in plants. The characterizations of these genes have demonstrated essential functions from the initiation of recombination by double-strand breaks to repair of such breaks, from the formation of double-Holliday junctions to possible resolution of these junctions, both of which are critical for crossover formation. The recent advances have ushered a new era in plant meiosis, in which the combination of genetics, genomics, and molecular cytology can uncover important gene functions. [source] Use of Genetic Analyses to Refine Phenotypes Related to Alcohol Tolerance and DependenceALCOHOLISM, Issue 2 2001John C. Crabbe Various explanations for the dependence on alcohol are attributed to the development of tolerance to some of alcohol's effects, alterations in sensitivity to its rewarding effects, and unknown pathologic consequences of repeated exposure. All these aspects of dependence have been modeled in laboratory rodents, and these studies have consistently shown a significant influence of genetics. Genetic mapping studies have identified the genomic location of the specific genes for some of these contributing phenotypes. In addition, studies have shown that some genes in mice seem to affect both alcohol self-administration and alcohol withdrawal severity: genetic predisposition to high levels of drinking covaries with genetic predisposition to low withdrawal severity, and vice versa. Finally, the role of genetic background on which genes are expressed is important, as are the specifics of the environment in which genetically defined animals are tested. Understanding dependence will require disentangling the multiple interactions of many contributing phenotypes, and genetic analyses are proving very helpful. However, rigorous understanding of both gene-gene and gene-environment interactions will be required to interpret genetic experiments clearly. [source] Genetic Architecture of Idiopathic Generalized Epilepsy: Clinical Genetic Analysis of 55 Multiplex FamiliesEPILEPSIA, Issue 5 2004Carla Marini Summary: Purpose: In families with idiopathic generalized epilepsy (IGE), multiple IGE subsyndromes may occur. We performed a genetic study of IGE families to clarify the genetic relation of the IGE subsyndromes and to improve understanding of the mode(s) of inheritance. Methods: Clinical and genealogic data were obtained on probands with IGE and family members with a history of seizures. Families were grouped according to the probands' IGE subsyndrome: childhood absence epilepsy (CAE), juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), and IGE with tonic,clonic seizures only (IGE-TCS). The subsyndromes in the relatives were analyzed. Mutations in genes encoding ,1 and ,2 ,-aminobutyric acid (GABA)-receptor subunits, ,1 and ,1 sodium channel subunits, and the chloride channel CLC-2 were sought. Results: Fifty-five families were studied. 122 (13%) of 937 first- and second-degree relatives had seizures. Phenotypic concordance within families of CAE and JME probands was 28 and 27%, respectively. JAE and IGE-TCS families had a much lower concordance (10 and 13%), and in the JAE group, 31% of relatives had CAE. JME was rare among affected relatives of CAE and JAE probands and vice versa. Mothers were more frequently affected than fathers. No GABA-receptor or sodium or chloride channel gene mutations were identified. Conclusions: The clinical genetic analysis of this set of families suggests that CAE and JAE share a close genetic relation, whereas JME is a more distinct entity. Febrile seizures and epilepsy with unclassified tonic,clonic seizures were frequent in affected relatives of all IGE individuals, perhaps representing a nonspecific susceptibility to seizures. A maternal effect also was seen. Our findings are consistent with an oligogenic model of inheritance. [source] Molecular Genetic Analysis of PRKAG2 in Sporadic Wolff-Parkinson-White SyndromeJOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY, Issue 3 2003CARL J. VAUGHAN Introduction: Mutations in the PRKAG2 gene that encodes the gamma2 regulatory subunit of AMP-activated protein kinase have been shown to cause autosomal dominant Wolff-Parkinson-White (WPW) syndrome associated with hypertrophic cardiomyopathy. Prior studies focused on familial WPW syndrome associated with other heart disease such as hypertrophic cardiomyopathy. However, such disease accounts for only a small fraction of WPW cases, and the contribution of PRKAG2 mutations to sporadic isolated WPW syndrome is unknown. Methods and Results: Subjects presented for clinical electrophysiologic evaluation of suspected WPW syndrome. WPW syndrome was diagnosed by ECG findings and/or by clinically indicated electrophysiologic study prior to enrollment. Echocardiography excluded hypertrophic cardiomyopathy. Denaturing high-performance liquid chromatography and automated sequencing were used to search for PRKAG2 mutations. Twenty-six patients without a family history of WPW syndrome were studied. No subject had cardiac hypertrophy, and only one patient had associated congenital heart disease. Accessory pathways were detected at diverse locations within the heart. Two polymorphisms in PRKAG2 were detected. [inv6+36insA] occurred in intron 6 in 4 WPW patients and [inv10+10delT] in intron 10 in 1 WPW patient. Both occurred in normal unrelated chromosomes. No PRKAG2 mutations were detected. Conclusion: This study shows that, unlike familial WPW syndrome, constitutional mutation of PRKAG2 is not commonly associated with sporadic WPW syndrome. Although polymorphisms within the PRKAG2 introns were identified, there is no evidence that these polymorphisms predispose to accessory pathway formation because their frequency is similarly high in both WPW patients and normal individuals. Further studies are warranted to identify the molecular basis of common sporadic WPW syndrome.(J Cardiovasc Electrophysiol, Vol. 14, pp. 263-268, March 2003) [source] Genetic Analysis of ele Mutants and Comparative Mapping of ele1 Locus in the Control of Organ Internal Asymmetry in Garden PeaJOURNAL OF INTEGRATIVE PLANT BIOLOGY, Issue 6 2010Xin Li Previous study has shown that during zygomorphic development in garden pea (Pisum sativum L.), the organ internal (IN) asymmetry of lateral and ventral petals was regulated by a genetic locus, SYMMETRIC PETAL 1 (SYP1), while the dorsoventral (DV) asymmetry was determined by two CYC - like TCP genes or the PsCYC genes, KEELED WINGS (K) and LOBED STANDARD 1 (LST1). In this study, two novel loci, ELEPHANT EAR-LIKE LEAF 1 (ELE1) and ELE2 were characterized. These mutants exhibit a similar defect of IN asymmetry as syp1 in lateral and ventral petals, but also display pleiotropic effects of enlarged organ size. Genetic analysis showed that ELE1 and ELE2 were involved in same genetic pathway and the enlarged size of petals but not compound leaves in ele2 was suppressed by introducing k and lst1, indicating that the enlargement of dorsal petal in ele2 requires the activities of K and LST1. An experimental framework of comparative genomic mapping approach was set up to map and clone LjELE1 locus in Lotus japonicus. Cloning the ELE1 gene will shed light on the underlying molecular mechanism during zygomorphic development and further provide the molecular basis for genetic improvement on legume crops. [source] Genetic Analysis and Molecular Mapping of a Rolling Leaf Mutation Gene in RiceJOURNAL OF INTEGRATIVE PLANT BIOLOGY, Issue 12 2007Ji-Cai Yi Abstract A rice mutant with rolling leaf, namely ,- rl, was obtained from M2 progenies of a native indica rice stable strain Qinghuazhan (QHZ) from mutagenesis of dry seeds by ,-rays. Genetic analysis using the F2 population from a cross between this mutant and QHZ indicated the mutation was controlled by a single recessive gene. In order to map the locus for this mutation, another F2 population with 601 rolling leaf plants was constructed from a cross between ,- rl and a japonica cultivar 02428. After primary mapping with SSR (simple sequence repeats) markers, the mutated locus was located at the short arm of chromosome 3, flanked by RM6829 and RM3126. A number of SSR, InDel (insertion/deletion) and SNP (single nucleotide polymorphism) markers within this region were further developed for fine mapping. Finally, two markers, SNP121679 and InDel422395, were identified to be flanked to this locus with genetic distances of 0.08 cM and 0.17 cM respectively, and two SNP markers, SNP75346 and SNP110263, were found to be co-segregated with this locus. These results suggested that this locus was distinguished from all loci for the rolling leaf mutation in rice reported so far, and thus renamed rl10(t). By searching the rice genome database with closely linked markers using BLAST programs, an e -physical map covering rl10(t) locus spanning about a 50 kb region was constructed. Expression analysis of the genes predicted in this region showed that a gene encoding putative flavin-containing monooxygenase (FMO) was silenced in ,- rl, thus this is the most likely candidate responsible for the rolling leaf mutation. [source] Genetic Analysis and Mapping of the Dominant Dwarfing Gene D-53 in RiceJOURNAL OF INTEGRATIVE PLANT BIOLOGY, Issue 4 2006Li-Rong Wei Abstract The dwarfing gene D-53 is one of a few dominant genes for dwarfing in rice (Oryza sativa L.). In the present study, our genetic analysis confirmed that mutant characteristics including dwarfing, profuse tillering, thin stems and small panicles are all controlled by the dominant D-53 gene. We measured the length of each internode of KL908, a D-53- carrying line, and classified the dwarfism of KL908 into the dn-type. In addition, we measured elongation of the second sheath and ,-amylase activity in the endosperm, and we characterized KL908 as a dwarf mutant that was neither gibberellic acid-deficient nor gibberellic acid-insensitive. Using a large F2 population obtained by crossing KL908 with a wild-type variety, NJ6, the D-53 gene was mapped to the terminal region of the short arm of chromosome 11, with one simple sequence repeat marker, Ds3, co-segregating, and the other, K81114, located 0.6 cM away. (Managing editor: Li-Hui Zhao) [source] A Behavioral Genetic Analysis of the Relationship Between the Socialization Scale and Self-Reported DelinquencyJOURNAL OF PERSONALITY, Issue 1 2000Jeanette Taylor This investigation examined the genetic (A), and shared (C) and nonshared (E) environmental variance contributions to the relationship of self-reported delinquency (as measured by the "Delinquent Behavior Inventory" [DBI; Gibson, 1967]) to the Socialization (So) scale of the California Psychological Inventory using univariate and bivariate structural equation models. The scales were administered to 222 male (145 monozygotic; 77 dizygotic) and 159 female (107 monozygotic; 52 dizygotic) 16- to 18-year-old same-sex twin pairs. Principal components analysis with varimax rotation revealed three interpretable So factors representing family/home environment, self-concept, and behavioral control. Univariate modeling suggested sex differences in etiological influences associated with individual differences in most scales. The bivariate ACE model fit the data, suggesting that the covariance between the So scale and self-reported delinquency owes in part to shared etiological factors. [source] Isolation, Characterization and Preliminary Genetic Analysis of Laboratory Tricyclazole-resistant Mutants of the Rice Blast Fungus, Magnaporthe griseaJOURNAL OF PHYTOPATHOLOGY, Issue 7-8 2006C. Q. Zhang Abstract The minimum inhibitory concentration of tricyclazole for hyphal melanization (MIC-H) was adopted to detect the sensitivity of 129 Magnaporthe grisea isolates collected in China in 2000. Results showed that the mean MIC-H was 0.2 ,g/ml and no isolate with a MIC-H ,1 ,g/ml was detected. Therefore, 1 ,g/ml was chosen as a discriminatory dose to identify resistant mutants generated by ultraviolet (UV) radiation. Only three low-level resistant (R) mutants derived from the sensitive (S) isolate TH16 were obtained. In addition, fitness decrease was observed for all mutants, with lower sporulation ability and pathogenicity to rice than that of the wild strain TH16. Four crosses between S × R and S × S were tested to determine the inheritance mode of resistance during the process of sexual recombination by analysing the sensitivity of hybrid F1 progeny to tricyclazole. Progeny of crosses between a tricyclazole-sensitive strain and tricyclazole-resistant mutants segregated in a 1 : 1 (R : S) ratio and no segregation was found in the cross of S × S, indicating that each mutant contained a single gene for resistance. No nucleotide differences leading to amino acid changes in the coding sequences for 1,3,6,8-tetrahydroxynaphthalene reductase (4HNR) and 1,3,8-trihydroxynaphthalene reductase (3HNR) were found between resistant mutants and sensitive strains. Therefore, it is preliminarily concluded that tricyclazole resistance in M. grisea was conferred by a one-locus mutation in a single Mendelian gene other than those encoding for 4HNR or 3HNR. [source] Genetic Analysis of Tolerance to Rice Tungro Bacilliform Virus in Rice (Oryza sativa L.) Through AgroinoculationJOURNAL OF PHYTOPATHOLOGY, Issue 4 2006N. S. Zenna Abstract Balimau Putih [an Indonesian cultivar tolerant to rice tungro bacilliform virus (RTBV)] was crossed with IR64 (RTBV, susceptible variety) to produce the three filial generations F1, F2 and F3. Agroinoculation was used to introduce RTBV into the test plants. RTBV tolerance was based on the RTBV level in plants by analysis of coat protein using enzyme-linked immunosorbent assay. The level of RTBV in cv. Balimau Putih was significantly lower than that of IR64 and the susceptible control, Taichung Native 1. Mean RTBV levels of the F1, F2 and F3 populations were comparable with one another and with the average of the parents. Results indicate that there was no dominance and an additive gene action may control the expression of tolerance to RTBV. Tolerance based on the level of RTBV coat protein was highly heritable (0.67) as estimated using the mean values of F3 lines, suggesting that selection for tolerance to RTBV can be performed in the early selfing generations using the technique employed in this study. The RTBV level had a negative correlation with plant height, but positive relationship with disease index value. [source] Genetic Analysis of the Latent Period of Stripe Rust in Wheat SeedlingsJOURNAL OF PHYTOPATHOLOGY, Issue 6 2004H. Dehghani Abstract Genetics of slow-rusting resistance to yellow rust (Puccinia striiformis f.sp. tritici) was studied by a half-diallel design using six wheat varieties, Tiritea (susceptible), Tancred, Kotare, Otane, Karamu, and Briscard. The parents and 15 F1 progenies were evaluated in the greenhouse by three pathotypes 7E18A,, 38E0A+, and 134E134A+. The latent period was measured as the number of days from inoculation to the appearance of the first pustule. For each pathotype a randomized complete block design was used and data were analysed by methods of Griffing and Hayman. The range of average degree of dominance was from complete dominance to over-dominance. Positive and negative degrees of dominance were observed for each pathotype that showed the reversal of dominance. Analysis of variance showed the importance of both additive and dominance effects in controlling the latent period. Broad-sense heritabilities were 0.99 and narrow-sense heritabilities ranged from 0.85 to 0.94. Briscard and Karamu for the pathotypes 38E0A+ and 134E134A+, Kotare for the pathotype 7E18A, and Tancred for the pathotype 38E0A+ had significant and positive general combining ability (GCA) (more resistance) for latent period. The crosses of Kotare with Tancred, Briscard and Karamu indicated the highest and positive specific combining ability (SCA) for the pathotype 7E18A,. Significant additive genetic component and moderate narrow-sense heritability indicate the possibility of improving for longer latent period of stripe rust in breeding programmes. [source] Prevalence and Preliminary Genetic Analysis of Giardia Isolated from Adult Sheep in Galicia (Northwest Spain)THE JOURNAL OF EUKARYOTIC MICROBIOLOGY, Issue 2006JOSÉ A. CASTRO-HERMIDA [source] Oviposition preference and larval performance within a diverging lineage of lycaenid butterfliesECOLOGICAL ENTOMOLOGY, Issue 3 2004Matthew L. Forister Abstract. 1. The butterfly genus Mitoura in Northern California includes three nominal species associated with four host plants having parapatric or interdigitated ranges. Genetic analyses have shown the taxa to be very closely related, and adults from all host backgrounds will mate and produce viable offspring in the laboratory. Oviposition preference and larval performance were investigated with the aim of testing the hypothesis that variation in these traits can exist in a system in which non-ecological barriers to gene flow (i.e. geographic barriers and genetic incompatibilities) appear to be minimal. 2. Females were sampled from 12 locations throughout Northern California, including sympatric and parapatric populations associated with the four different host-plant species. Oviposition preference was assayed by confining wild-caught females with branches of all four host species and counting the number of eggs laid on each. Offspring were reared on the same host species and two measures of larval success were taken: per cent survival and pupal weight. 3. For populations associated with one of the hosts, incense cedar, the preference,performance relationship is simple: the host that females chose is the plant which results in the highest pupal weights for offspring. The preference,performance relationship for populations associated with the other hosts is more complex and may reflect different levels of local adaptation. The variation in preference and performance reported here suggests that these traits can evolve when non-ecological barriers to gene flow are low, and that differences in these traits may be important for the evolution of reproductive isolation within Mitoura. [source] Effects of environmental pollution on microsatellite DNA diversity in wood mouse (Apodemus sylvaticus) populationsENVIRONMENTAL TOXICOLOGY & CHEMISTRY, Issue 11 2005Veerle Berckmoes Abstract Ten microsatellite DNA loci were surveyed to investigate the effects of heavy metal pollution on the genetic diversity and population genetic structure of seven wood mouse (Apodemus sylvaticus) populations along a heavy metal pollution gradient away from a nonferrous smelter in the south of Antwerp (Flanders, Belgium). Analysis of soil heavy metal concentrations showed that soil Ag, As, Cd, Cu, and Pb decreased with increasing distance from the smelter. Genetic analyses revealed high levels of genetic variation in all populations, but populations from the most polluted sites in the gradient did not differ from those of less-polluted sites in terms of mean observed and expected heterozygosity level and mean allelic richness. No correlation was found between measures of genetic diversity and the degree of heavy metal pollution. However, an analysis of molecular variance and a neighbor-joining tree suggested a contamination-related pattern of genetic structuring between the most polluted and less polluted sites. Pairwise FST values indicated that populations were significantly genetically differentiated, and assignment tests and direct estimates of recent migration rates suggested restricted gene flow among populations. Additionally, genetic differentiation increased significantly with geographical distance, which is consistent with an isolation-by-distance model. We conclude that, at least for our microsatellite DNA markers, genetic diversity in the studied wood mouse populations is not affected greatly by the heavy metal pollution. [source] Detection of unique neutrophil non-muscle myosin heavy chain-A localization by immunofluorescence analysis in MYH9 disorder presented with macrothrombocytopenia without leukocyte inclusions and deafnessEUROPEAN JOURNAL OF HAEMATOLOGY, Issue 1 2005Shinji Kunishima Abstract:,MYH9 disorders are autosomal-dominant macrothrombocytopenias with leukocyte inclusions caused by mutations in the MYH9 gene, which encodes the non-muscle myosin heavy chain-A (NMMHCA). We report a patient with an MYH9 disorder who presented with macrothrombocytopenia without leukocyte inclusions and severe bilateral sensory deafness. Conventional May,Grünwald,Giemsa staining failed to detect granulocyte cytoplasmic inclusions, whereas immunofluorescence analysis clearly demonstrated abnormal neutrophil NMMHCA localization. Genetic analyses revealed a novel heterozygous 18 base deletion in MYH9, leading to a six-amino acid in-frame deletion (N76_S81del) in NMMHCA. These results further support the usefulness of immunofluorescence analysis in differential diagnosis of MYH9 disorders. [source] Fusion of ALK to the Ran-binding protein 2 (RANBP2) gene in inflammatory myofibroblastic tumorGENES, CHROMOSOMES AND CANCER, Issue 1 2003Zhigui Ma Inflammatory myofibroblastic tumor (IMT) is a rare mesenchymal proliferation of transformed myofibroblasts, with a prominent inflammatory cell component, that can mimic other spindle cell processes such as nodular fasciitis, desmoid tumor, and gastrointestinal stromal tumor. Genetic analyses have recently demonstrated rearrangements of anaplastic lymphoma kinase (ALK), located at 2p23, in a subset of IMTs. Molecular characterizations have identified ALK fusions involving tropomyosin-3 and -4 (TPM-3 and -4), the clathrin heavy chain (CLTC), and the cysteinyl-tRNA synthetase (CARS) genes as fusion partners. Here we describe two IMTs with a novel ALK fusion that involves the Ran-binding protein 2 (RANBP2) gene at 2q13, which normally encodes a large (358-kDa) nucleopore protein localized at the cytoplasmic side of the nuclear pore complex. The N-terminal 867 residues of RANBP2 are fused to the cytoplasmic segment of ALK in the 1,430,amino acid RANBP2-ALK chimeric protein. Myofibroblasts that express RANBP2-ALK exhibit nuclear membrane-associated ALK staining that is unique compared to the subcellular localization observed with other ALK fusions in IMT, presumably attributable to heteroassociation of the fusion with normal RANBP2 at the nuclear pore. These findings expand the spectrum of ALK abnormalities observed in IMT and further confirm the clonal, neoplastic nature of these lesions. © 2003 Wiley-Liss, Inc. [source] Two generations with familial thrombotic thrombocytopenic purpuraINTERNATIONAL JOURNAL OF CLINICAL PRACTICE, Issue 1 2006R. G. Rodrigues Summary Thrombotic thrombocytopenic purpura (TTP) is a rare multi-system disease characterised by the pentad of microangiopathic haemolytic anaemia, thrombocytopenia, renal dysfunction, fever and neurologic changes. A hereditary form of recurrent familial TTP has been described, which usually presents in adolescence or early adulthood and can lead to recurrent or chronic relapsing TTP. Genetic analyses of patients with familial TTP have linked the disease to chromosome 9q34, and an increased incidence is seen in people with HLA-B40 group antigens. We describe here an 11-year-old Egyptian girl with no significant past medical history who presented with new onset of bruising, petechial rash, fatigue and fevers and was diagnosed with familial TTP. Further testing revealed that both the patient and her father had the HLA-B40 group antigen and also had ADAMTS-13 von Willebrand factor-cleaving protease deficiency as well as factor-H deficiency. [source] Intraspecific genetic analysis of the summer tanager Piranga rubra: implications for species limits and conservationJOURNAL OF AVIAN BIOLOGY, Issue 1 2007Tiffany M. Shepherd The summer tanager Piranga rubra is a Neotropical migrant that has experienced noted declines in the southwestern United States caused by extensive habitat loss of native riparian woodlands. This species is composed of two morphologically and behaviorally distinct taxa that traditionally have been recognized as subspecies, each occupying unique habitats in the southern part of North America. Genetic analyses of intraspecific variation are important in studies of threatened or endangered species because they can indicate whether smaller management units exist below the species level and they also provide estimates of within population variability. Using a mitochondrial DNA marker, the intraspecific genetic variation of this species is explored to determine whether the morphologically and behaviorally distinct subspecies are also genetically unique. By using traditional phylogenetic methods and building haplotype networks, results from this study indicate that the subspecies represent two phylogenetic species and should be managed as separate units. In addition, the level of gene flow among geographically isolated populations of the western subspecies is explored using Nested Clade Phylogeographic Analysis and population genetic tests. These analyses show that populations are genetically diverse and that haplotypes are shared across populations. Newly colonized populations are as diverse as older populations. This suggests that as habitat degrades in traditional breeding areas of the summer tanager, if suitable habitat elsewhere becomes available for new populations, these new colonies should be genetically diverse. [source] RNT-1 regulation in C. elegansJOURNAL OF CELLULAR BIOCHEMISTRY, Issue 1 2005Yon Ju Ji Abstract RUNXs are important transcription factors, which are involved in animal development and human carcinogenesis. RNT-1, the only homologue of RUNXs, in Caenorhabditis elegans (C. elegans) has been identified and viable mutant animals of rnt-1 gene have been isolated and characterized recently. Genetic analyses using rnt- 1 mutants have shown that RNT-1 is regulated by TGF,- and Wnt-signaling pathways in the body size regulation and male tail development. Here, we review our current understanding of RNT-1 functions in these signaling pathways. Furthermore, future prospects of RNT-1 and BRO-1 studies in C. elegans are discussed in this review. © 2005 Wiley-Liss, Inc. [source] Evolutionary acceleration in the most endangered mammal of Canada: speciation and divergence in the Vancouver Island marmot (Rodentia, Sciuridae)JOURNAL OF EVOLUTIONARY BIOLOGY, Issue 5 2007A. CARDINI Abstract The Vancouver Island marmot is the most endangered mammal of Canada. Factors which have brought this population to the verge of extinction have not yet been fully elucidated, but the effects of deforestation and habitat fragmentation on survival rates, as well as those of variation in rainfall, temperature, snowpack depth and snowmelt strongly suggest that marmots on the island are struggling to keep pace with environmental changes. Genetic analyses, however, seem to indicate that the Vancouver Island marmot may merely represent a melanistic population of its parental species on the mainland. Were it not for its black pelage colour, it is unlikely that it would have attracted much attention as a conservation priority. Our study uses three-dimensional coordinates of cranial landmarks to further assess phenotypic differentiation of the Vancouver Island marmot. A pattern of strong interspecific divergence and low intraspecific variation was found which is consistent with aspects of drift-driven models of speciation. However, the magnitude of shape differences relative to the putatively neutral substitutions in synonymous sites of cytochrome b is too large for being compatible with a simple neutral model. A combination of bottlenecks and selective pressures due to natural and human-induced changes in the environment may offer a parsimonious explanation for the large phenotypic differentiation observed in the species. Our study exemplifies the usefulness of a multidisciplinary approach to the study of biological diversity for a better understanding of evolutionary models and to discover aspects of diversity that may be undetected by using only a few genetic markers to characterize population divergence and uniqueness. [source] Flycatcher song in allopatry and sympatry , convergence, divergence and reinforcementJOURNAL OF EVOLUTIONARY BIOLOGY, Issue 2 2004J. Haavie Abstract The theory of reinforcement predicts that natural selection against the production of unfit hybrids favours traits that increase assortative mating. Whether culturally inherited traits, such as bird song, can increase assortative mating by reinforcement is largely unknown. We compared songs of pied (Ficedula hypoleuca) and collared flycatchers (F. albicollis) from two hybrid zones of different ages with songs from allopatric populations. Previously, a character divergence in male plumage traits has been shown to reinforce premating isolation in sympatric flycatchers. In contrast, we find that the song of the pied flycatcher has converged towards that of the collared flycatcher (mixed singing). However, a corresponding divergence in the collared flycatcher shows that the species differences in song characters are maintained in sympatry. Genetic analyses suggest that mixed song is not caused by introgression from the collared flycatcher, but rather due to heterospecific copying. Circumstantial evidence suggests that mixed song may increase the rate of maladaptive hybridization. In the oldest hybrid zone where reinforcement on plumage traits is most pronounced, the frequency of mixed singing and hybridization is also lowest. Thus, we suggest that reinforcement has reduced the frequency of mixed singing in the pied flycatcher and caused a divergence in the song of the collared flycatcher. Whether a culturally inherited trait promotes or opposes speciation in sympatry may depend on its plasticity. The degree of plasticity may be genetically determined and accordingly under selection by reinforcement. [source] Alcoholism Susceptibility Loci: Confirmation Studies in a Replicate Sample and Further MappingALCOHOLISM, Issue 7 2000Tatiana Foroud Background: There is substantial evidence for a significant genetic component to the risk for alcoholism. A previous study reported linkage to chromosomes 1, 2, and 7 in a large data set that consisted of 105 families, each with at least three alcoholic members. Methods: Additional, genotyping in the 105 families has been completed in the chromosomal regions identified in the initial analyses, and a replication sample of 157 alcoholic families ascertained under identical criteria has been genotyped. Two hierarchical definitions of alcoholism were employed in the linkage analyses: (1) Individuals who met both Feighner and DSM-III-R criteria for alcohol dependence represented a broad definition of disease; and (2) individuals who met ICD-10 criteria for alcoholism were considered affected under a more severe definition of disease. Results: Genetic analyses of affected sibling pairs supported linkage to chromosome 1 (LOD = 1.6) in the replication data set as well as in a combined analysis of the two samples (LOD = 2.6). Evidence of linkage to chromosome 7 increased in the combined data (LOD = 2.9). The LOD score on chromosome 2 in the initial data set increased after genotyping of additional markers; however, combined analyses of the two data sets resulted in overall lower LOD scores (LOD = 1.8) on chromosome 2. A new finding of linkage to chromosome 3 was identified in the replication data set (LOD = 3.4). Conclusions: Analyses of a second large sample of alcoholic families provided further evidence of genetic susceptibility loci on chromosomes 1 and 7. Genetic analyses also have identified susceptibility loci on chromosomes 2 and 3 that may act only in one of the two data sets. [source] The recolonization of Europe by brown bears Ursus arctos Linnaeus, 1758 after the Last Glacial MaximumMAMMAL REVIEW, Issue 2 2005R. S. SOMMER ABSTRACT 1.,At the end of the Last Glacial Maximum brown bears Ursus arctos recolonized the glacial landscape of Central and Northern Europe faster than all other carnivorous mammal species of the Holocene fauna. Ursus arctos was recorded in Northern Europe from the beginning of the Late-Glacial. The recolonization of northern Central Europe may have taken place directly after the maximum glaciation. The distribution of the brown bear was restricted to glacial refugia only during the Last Glacial Maximum, for probably no more than 10 000 years. 2.,Genetic analyses have suggested three glacial refugia for the brown bear: the Iberian Peninsula, the Italian Peninsula and the Balkans. Subfossil records of Ursus arctos from north-western Moldova as well as reconstructed environmental conditions during the Last Glacial Maximum in this area suggest to us a fourth glacial refuge for the brown bear. Because of its connection to the Carpathians, we designate this as the ,Carpathian refuge'. 3.,Due to the low genetic distance between brown bears of northern Norway, Finland, Estonia, north-eastern Russia and the northern Carpathians (the so-called eastern lineage), the Carpathians were considered the geographical origin of the recolonization of these regions. During the recolonization of northern Europe the brown bear probably reached these areas rapidly from the putative Carpathian refuge. [source] Genetics, behaviour and chemical recognition of the invading ant Pheidole megacephalaMOLECULAR ECOLOGY, Issue 2 2009DENIS FOURNIER Abstract Introduced species often become ecologically dominant, displacing native species and posing a serious threat to ecosystem function and global biodiversity. Ants are among the most widespread and damaging alien species; introductions are often accompanied by population-level behavioural and genetic changes contributing to their success. We investigated the genetic structure, chemical profile and nestmate recognition in introduced populations of the invasive big-headed ant, Pheidole megacephala, in Australia. Behavioural analyses show that workers are not aggressive towards conspecifics from different nests, even at large geographical scales (up to 3000 km) and between populations encompassing a wide range of environmental conditions. By contrast, interactions with workers of other species invariably result in agonistic behaviours. Genetic analyses reveal that populations have low genetic diversity. No genetic differentiation occurs among nests of the same population; differentiation between populations, though significant, remains weak. Chemical analyses indicate that cuticular lipids are similar between colonies of a population, and that differentiation between populations is low. Altogether, these results indicate that the big-headed ant P. megacephala forms a large unicolonial population across northern/eastern Australia. [source] Diversity of algal endosymbionts (zooxanthellae) in octocorals: the roles of geography and host relationshipsMOLECULAR ECOLOGY, Issue 8 2005M. J. H. VAN OPPEN Abstract The presence, genetic identity and diversity of algal endosymbionts (Symbiodinium) in 114 species from 69 genera (20 families) of octocorals from the Great Barrier Reef (GBR), the far eastern Pacific (EP) and the Caribbean was examined, and patterns of the octocoral,algal symbiosis were compared with patterns in the host phylogeny. Genetic analyses of the zooxanthellae were based on ribosomal DNA internal transcribed spacer 1 (ITS1) region. In the GBR samples, Symbiodinium clades A and G were encountered with A and G being rare. Clade B zooxanthellae have been previously reported from a GBR octocoral, but are also rare in octocorals from this region. Symbiodinium G has so far only been found in Foraminifera, but is rare in these organisms. In the Caribbean samples, only Symbiodinium clades B and C are present. Hence, Symbiodinium diversity at the level of phylogenetic clades is lower in octocorals from the Caribbean compared to those from the GBR. However, an unprecedented level of ITS1 diversity was observed within individual colonies of some Caribbean gorgonians, implying either that these simultaneously harbour multiple strains of clade B zooxanthellae, or that ITS1 heterogeneity exists within the genomes of some zooxanthellae. Intracladal diversity based on ITS should therefore be interpreted with caution, especially in cases where no independent evidence exists to support distinctiveness, such as ecological distribution or physiological characteristics. All samples from EP are azooxanthellate. Three unrelated GBR taxa that are described in the literature as azooxanthellate (Junceella fragilis, Euplexaura nuttingi and Stereonephthya sp. 1) contain clade G zooxanthellae, and their symbiotic association with zooxanthellae was confirmed by histology. These corals are pale in colour, whereas related azooxanthellate species are brightly coloured. The evolutionary loss or gain of zooxanthellae may have altered the light sensitivity of the host tissues, requiring the animals to adopt or reduce pigmentation. Finally, we superimposed patterns of the octocoral,algal symbiosis onto a molecular phylogeny of the host. The data show that many losses/gains of endosymbiosis have occurred during the evolution of octocorals. The ancestral state (azooxanthellate or zooxanthellate) in octocorals remains unclear, but the data suggest that on an evolutionary timescale octocorals can switch more easily between mixotrophy and heterotrophy compared to scleractinian corals, which coincides with a low reliance on photosynthetic carbon gain in the former group of organisms. [source] Microsatellite analysis of female mating behaviour in lek-breeding sage grouseMOLECULAR ECOLOGY, Issue 8 2001K. Semple Abstract We used microsatellite DNA markers to genotype chicks in 10 broods of lek-breeding sage grouse, Centrocercus urophasianus, whose mothers' behaviour was studied by radio-tracking and observing leks. Previous behavioural studies suggested that almost all matings are performed by territorial males on leks and that multiple mating is rare. Two broods (20%) were sired by more than one male. Genetic analyses of the broods of eight females that visited an intensively studied lek were consistent with behavioural observations. Four females observed mating produced singly sired broods and males other than the individual observed copulating were excluded as sires for most or all of their chicks. Territorial males at the study lek were excluded as sires of broods of four other females that visited the lek but were not observed mating there. Radio-tracking suggested that two of these females mated at other leks. Our results confirm the reliability of mating observations at leks, but do not rule out a possible unseen component of the mating system. [source] Spatial repartition and genetic relationship of green and albino individuals in mixed populations of Cephalanthera orchidsPLANT BIOLOGY, Issue 4 2010V. Tranchida-Lombardo Abstract Several green orchids of the Neottieae tribe acquire organic carbon both from their mycorrhizal fungi and from photosynthesis. This strategy may represent an intermediate evolutionary step towards mycoheterotrophy of some non-photosynthetic (albino) orchids. Mixed populations of green and albino individuals possibly represent a transient evolutionary stage offering opportunities to understand the evolution of mycoheterotrophy. In order to understand the emergence of albinos, we investigated patterns of spatial and genetic relationships among green and albino individuals in three mixed populations of Cephalanthera damasonium and one of C. longifolia using spatial repartition and Amplified fragment length polymorphism (AFLP) markers. Two of these populations were monitored over two consecutive flowering seasons. In spatial repartition analyses, albino individuals did not aggregate more than green individuals. Genetic analyses revealed that, in all sampled populations, albino individuals did not represent a unique lineage, and that albinos were often closer related to green individuals than to other albinos from the same population. Genetic and spatial comparison of genets from the 2-year monitoring revealed that: (i) albinos had lower survival than green individuals; (ii) accordingly, albinos detected in the first year did not correspond to the those sampled in the second year; and (iii) with one possible exception, all examined albinos did not belong to any green genet from the same and/or from the previous year, and vice versa. Our results support a scenario of repeated insurgence of the albino phenotypes within the populations, but unsuccessful transition between the two contrasting phenotypes. Future studies should try to unravel the genetic and ecological basis of the two phenotypes. [source] Differential regulation of ACC synthase genes in cold-dependent and -independent ripening in pear fruitPLANT CELL & ENVIRONMENT, Issue 10 2004I. EL-SHARKAWY ABSTRACT Late pear cultivars such as Passe-Crassane (PC) require a long chilling treatment before they are capable of ripening. Early cultivars such as Old-Home (OH) have no cold prerequisite. The regulation of 1-aminocyclopropane-1-carboxylic acid synthase (ACS) genes was studied in OH, PC and in OH × PC hybrids in order to determine the role of this gene family in the cold requirement. Of the seven Pc-ACS cDNAs isolated, four (Pc-ACS1a/b and Pc-ACS2a/b) showed differential expression associated with the cold requirement. Pc-ACS1a transcripts accumulated throughout the cold treatment and, with Pc-ACS2a, during ripening of cold-dependent cultivars. Pc-ACS1b and Pc-ACS2b were detected only during ripening of cold-independent genotypes. Furthermore, Pc-ACS2a transcript accumulation was negatively regulated by ethylene, whereas Pc-ACS2b was positively regulated by the hormone. Pc-ACS3, 4 and 5 transcript accumulation was similar in all genotypes. Genetic analyses of OH, PC, and 22 OH × PC progenies demonstrated that late, cold-dependent cultivars were homozygous for Pc-ACS1a and 2a whereas early, cold-independent cultivars were heterozygous for Pc-ACS1(a/b) and homozygous for Pc-ACS2b. A model is presented in which differences in Pc-ACS alleles and gene expression between cold- and non-cold-requiring pears are critical in determining the ripening behaviour of the cultivars. [source] | |||||||||||||||||||||||||||||||||||||