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Polymorphism Markers (polymorphism + marker)
Kinds of Polymorphism Markers Selected AbstractsParent-of-origin, imprinting, mitochondrial, and X-linked effects in traits related to alcohol dependence: Presentation Group 18 of Genetic Analysis Workshop 14GENETIC EPIDEMIOLOGY, Issue S1 2005Konstantin Strauch Abstract The participants of Presentation Group 18 of Genetic Analysis Workshop 14 analyzed the Collaborative Study on the Genetics of Alcoholism data set to investigate sex-specific effects for phenotypes related to alcohol dependence. In particular, the participants looked at imprinting (which is also known as parent-of-origin effect), differences between recombination fractions for the two sexes, and mitochondrial and X-chromosomal effects. Five of the seven groups employed newly developed or existing methods that take imprinting into account when testing for linkage, or test for imprinting itself. Single-marker and multipoint analyses were performed for microsatellite as well as single-nucleotide polymorphism markers, and several groups used a sex-specific genetic map in addition to a sex-averaged map. Evidence for paternal imprinting (i.e., maternal expression) was consistently obtained by at least two groups at genetic regions on chromosomes 10, 12, and 21 that possibly harbor genes responsible for alcoholism. Evidence for maternal imprinting (which is equivalent to paternal expression) was consistently found at a locus on chromosome 11. Two groups applied extensions of variance components analysis that model a mitochondrial or X-chromosomal effect to latent class variables and electrophysiological traits employed in the diagnosis of alcoholism. The analysis, without using genetic markers, revealed mitochondrial or X-chromosomal effects for several of these traits. Accounting for sex-specific environmental variances appeared to be crucial for the identification of an X-chromosomal factor. In linkage analysis using marker data, modeling a mitochondrial variance component increased the linkage signals obtained for autosomal loci. Genet. Epidemiol. 29(Suppl. 1):S125,S132, 2005. © 2005 Wiley-Liss, Inc. [source] Case-control single-marker and haplotypic association analysis of pedigree dataGENETIC EPIDEMIOLOGY, Issue 2 2005Sharon R. Browning Abstract Related individuals collected for use in linkage studies may be used in case-control linkage disequilibrium analysis, provided one takes into account correlations between individuals due to identity-by-descent (IBD) sharing. We account for these correlations by calculating a weight for each individual. The weights are used in constructing a composite likelihood, which is maximized iteratively to form likelihood ratio tests for single-marker and haplotypic associations. The method scales well with increasing pedigree size and complexity, and is applicable to both autosomal and X chromosomes. We apply the approach to an analysis of association between type 2 diabetes and single-nucleotide polymorphism markers in the PPAR-, gene. Simulated data are used to check validity of the test and examine power. Analysis of related cases has better power than analysis of population-based cases because of the increased frequencies of disease-susceptibility alleles in pedigrees with multiple cases compared to the frequencies of these alleles in population-based cases. Also, utilizing all cases in a pedigree rather than just one per pedigree improves power by increasing the effective sample size. We demonstrate that our method has power at least as great as that of several competing methods, while offering advantages in the ability to handle missing data and perform haplotypic analysis. Genet. Epidemiol. 28:110,122, 2005. © 2004 Wiley-Liss, Inc. [source] Comparative linkage map development and identification of an autosomal locus for insensitive acetylcholinesterase-mediated insecticide resistance in Culex tritaeniorhynchusINSECT MOLECULAR BIOLOGY, Issue 3 2001A. Mori Abstract A comparative linkage map for Culex tritaeniorhynchus was constructed based on restriction fragment length polymorphism markers using cDNAs from Aedes aegypti. Linear orders of marker loci in Cx. tritaeniorhynchus were identical to Culex pipiens wherein chromosomes 2 and 3 reflect whole-arm rearrangements compared to A. aegypti. However, the sex determination locus in Cx. tritaeniorhynchus maps to chromosome 3, in contrast to Cx. pipiens and Ae. aegypti where it is located on chromosome 1. Our results indicate that insensitive acetylcholinesterase (AChE)-mediated organophosphate resistance is controlled by a single major gene (AChER) on chromosome 2, while the AChE structural gene (Ace) is located on chromosome 1. No evidence for a second Ace gene was observed, even under very low stringency hybridization conditions. [source] Tuscany autochthonous cattle breeds: an original genetic resource investigated by AFLP markersJOURNAL OF ANIMAL BREEDING AND GENETICS, Issue 1 2006R. Negrini Summary The aim of this study was to assess the genetic diversity of four autochthonous cattle breeds of Tuscany and their relationships in comparison with Italian Friesian and Italian Brown, using amplified fragment length polymorphism markers. A total of 212 individuals were genotyped with three primer combinations generating 102 polymorphic markers. Average expected heterozygosity ranged from 0.23 in Mucca Pisana to 0.26 in Chianina, Italian Friesian, Italian Brown and Maremmana. The differences resulted not significant (Kruskall,Wallis test, p = 0.416). Gst-B index revealed that 86% of the total genetic variance is retained within population and only 14% is accounted by the between populations component. Multivariate analysis at individual and population level indicated that: (i) Calvana and Chianina are quite separate from the other breeds as an effect of the bottleneck experienced or as a signature of different origin; (ii) Podolian, Maremmana and Italian Brown clustered with the double purpose Mucca Pisana, revealing their contribution to its admixed genetic make up; (iii) Italian Friesian behaved always as out group. The ,analysis of molecular variance' recovered a significant subdivision clustering the six populations into three groups: Italian Friesian and Italian Brown versus Maremmana and Mucca Pisana versus Chianina and Calvana (6% of the total variance). [source] Aphid species identification using cuticular hydrocarbons and cytochrome b gene sequencesJOURNAL OF APPLIED ENTOMOLOGY, Issue 2 2005F. Raboudi Abstract:, In Tunisia, four major aphid species have been identified based on adult female's morphological characters: Aphis gossypii Glover, Aphis craccivora Koch, Myzus persicae Sluzer and Macrosiphum euphorbiae Thomas. Species identification at individual collection sites is often difficult because adults are much fewer in number than larvae which are not so easy to distinguish morphologically. We therefore set up an experiment to determine if cuticular hydrocarbon phenotypes and mitochondrial DNA haplotypes could be used to distinguish such sympatric species. Results showed that each species had an unique cuticular hydrocarbon phenotype and mitochondrial cytochrome b sequence. Cytochrome b restriction fragment-length polymorphism markers, especially DdeI, identified in this sudy constitute a relatively simple and useful approach to distinguish the four species even at the nymphal stage. [source] Grapevine yellows in Northern Italy: molecular identification of Flavescence dorée phytoplasma strains and of Bois Noir phytoplasmasJOURNAL OF APPLIED MICROBIOLOGY, Issue 6 2007S. Botti Abstract Aims:, Verify the presence and the molecular identity of phytoplasmas in Northern and Central Italy vineyards where yellows diseases are widespread. Methods and Results:, Phytoplasma presence and identity were determined by PCR/RFLP analyses on 16S ribosomal gene testing 1424 symptomatic samples. The 65% of samples resulted phytoplasma infected; in particular 256 samples were found positive to phytoplasmas belonging to group 16SrV (mainly Flavescence dorée associated), and the remaining 37% was infected by phytoplasmas belonging to ribosomal subgroup 16SrXII-A (Stolbur or Bois Noir associated). 16SrV ribosomal group representative strains were further typed for variability in SecY and rpS3 genes. The results showed the presence of phytoplasmas belonging to 16SrV-C, 16SrV-D and to a lesser extent, 16SrV-A subgroup. Conclusions:, Possible relationships between genetic polymorphisms of phytoplasma strains belonging to subgroup 16SrV-C and their geographic distribution and/or epidemic situations were detected. Significance and Impact of the Study:, Bois Noir and Flavescence dorée phytoplasmas are present in significant percentages in the areas under investigation. Molecular tools allowed to identify phytoplasma-infected plants and the genes employed as polymorphism markers resulted useful in distinguishing and monitoring the spreading of the diseases associated with diverse phytoplasmas belonging to 16SrV subgroup in vineyards. [source] Patterns of population genetic diversity in riparian and aquatic plant species along riversJOURNAL OF BIOGEOGRAPHY, Issue 9 2010Olivier Honnay Abstract Aim, The downstream hydrochoric spread of seeds of aquatic and riparian plant species, without upstream compensation, can be expected to result in downstream accumulation of population genetic diversity. This idea has been termed the ,unidirectional dispersal hypothesis' and is the genetic equivalent of the more generally known ,drift paradox'. Our aim was to test this unidirectional diversity hypothesis, and to present a general synthesis of the patterns of population genetic variation across different riparian and aquatic plant species along rivers. Location, The Meuse River (Belgium) and rivers world-wide. Methods, First, we used amplified fragment length polymorphism markers to compare patterns of within- and between-population genetic diversity among three riparian plant species (Sisymbrium austriacum, Erysimum cheiranthoides and Rorippa sylvestris), typically occurring in different habitats along a gradient perpendicular to the Meuse River. Second, we performed a meta-analysis on studies reporting on the population genetic structure of riparian and aquatic plant species along rivers. Results, Along the Meuse River, we found significant genetic differentiation among populations of all three riparian species, and significant isolation by distance for one of them (R. sylvestris). There was no clear association between the typical habitat of a species and its population genetic structure. None of the three species provided evidence for the unidirectional dispersal hypothesis. The meta-analysis, based on 21 data records, did not support the unidirectional dispersal hypothesis either. Average weighted population genetic differentiation across species was significant. Main conclusions, Important mechanisms of upstream seed dispersal, probably through zoochory, together with higher seed recruitment opportunities in upstream habitats due to density dependence of recruitment, may explain the absence of downstream accumulation of genetic diversity. Also, it seems difficult to find consistent patterns in genetic variation in species from aquatic and riparian habitats. We argue that this is due to the recurrent extinctions and colonizations characteristic of these habitats, resulting in complex genetic patterns. Our results strongly support previous suggestions that stream ecology should consistently embrace metapopulation theory to be able to understand patterns of genetic diversity, as well as species diversity. [source] Population genetics and breeding system of Tupistra pingbianensis (Liliaceae), a naturally rare plant endemic to SW ChinaJOURNAL OF SYSTEMATICS EVOLUTION, Issue 1 2010Qin QIAO Abstract The levels and partitioning of genetic diversity and inbreeding depression were investigated in Tupistra pingbianensis, a narrow endemic of southeast Yunnan, China, characterized by a naturally fragmented distribution due to extreme specialization on a rare habitat type. Here genetic diversity and patterns of genetic variation within and among 11 populations were analyzed using amplified fragment length polymorphism markers with 97 individuals across its whole geographical range. High levels of genetic variation were revealed both at the species level (P99= 96.012%; Ht= 0.302) and at the population level (P99= 51.41%; Hs= 0.224). Strong genetic differentiation among populations was also detected (FST= 0.2961; ,II= 0.281), which corresponded to results reported for typical animal-pollinated, mixed selfing, and outcrossing plant species. This result was consistent with mating patterns detected by our pollination experiments. The indirect estimate of gene flow based on ,II was low (Nm= 0.64). Special habitat and its life history traits might play an important role in shaping the genetic diversity and the genetic structure of this species. A pollination experiment also failed to detect significant inbreeding depression upon F1 fruit set, seed weight, and germinate rate fitness-traits. As a naturally rare species, T. pingbianensis is not seriously genetically impoverished and likely to have adapted to tolerating a high level of inbreeding early in its history, we propose this species need only periodic monitoring to ensure their continued persistence, but not intervention to remain viable. [source] Genome scan in the mosquito Aedes rusticus: population structure and detection of positive selection after insecticide treatmentMOLECULAR ECOLOGY, Issue 2 2010MARGOT PARIS Abstract Identification of genes involved in local adaptation is particularly challenging for species functioning as a network of interconnected populations undergoing frequent extinctions,recolonizations, because populations are submitted to contrasted evolutionary pressures. Using amplified fragment length polymorphism markers, population genetic structure of the mosquito Aedes rusticus was analysed in five geographical areas of the French Rhône-Alpes region. We included a number of sites that were treated with the bio-insecticide Bacillus thuringiensis israelensis (Bti) for more than 15 years. Analysis of molecular variance revealed that most of the genetic variability was found within populations (96%), with no significant variation among geographical areas, although variation among populations within areas (4%) was significant. The global genetic differentiation index FST was low (0.0366 ± 0.167). However, pairwise FST values were significant and no isolation-by-distance at the regional level was observed, suggesting a metapopulation structure in this species. Bti -treatment had no effect on genetic structure and on within-population genetic diversity. Potential signatures of positive selection associated with Bti -treatment were detected for five loci, even though toxicological bioassays performed on field-collected larvae showed no significant difference in mortality between Bti -treated and nontreated sites. The difficulty of detecting moderate resistance in field-collected larvae together with possible differential persistence of toxins in the environment may explain our inability to detect a toxicological response to Bti in treated sites. The evidence for positive selection occurring at several genomic regions suggests a first step towards Bti resistance in natural mosquito populations treated with this bio-insecticide. Furthermore, this signal was detectable using genomic tools before any toxicological evidence for resistance could be identified. [source] Hybridization and Rorippa austriaca (Brassicaceae) invasion in GermanyMOLECULAR ECOLOGY, Issue 7 2003W. Bleeker Abstract Introgressive hybridization between the invasive Rorippa austriaca and the native R. sylvestris in Germany has been studied using chloroplast DNA (trnL intron) and amplified fragment length polymorphism. Three hybrid zones between the invasive and native species were located in the Ruhr Valley (Mülheim) and at the River Main near Würzburg (Randersacker, Winterhausen). In each hybrid zone hybridization was indicated by additivity of region-specific amplified fragment length polymorphism markers proving independent hybridization events. The hybrids were either morphologically intermediate (R. × armoracioides) or were close to R. sylvestris. The trnL intron of R. austriaca is characterized by a species-specific deletion. This diagnostic chloroplast marker of R. austriaca was detected in three individuals of R. sylvestris providing evidence for introgression of the invasive chloroplast into the native species. Bidirectional introgression of R. austriaca markers into R. sylvestris and of R. sylvestris markers into R. austriaca was detected in the amplified fragment length polymorphism analysis. Some of the invasive R. austriaca populations showed high within-population variation. A possible association among introgression, within-population variation and invasion success is discussed. The morphologically intermediate hybrid R. × armoracioides is currently spreading in northern Germany. It forms large populations without its parent species R. austriaca and R. sylvestris. It is concluded that hybridization between invasive R. austriaca and native R. sylvestris may lead to the evolution of a new invasive species R. × armoracioides. [source] Sampling within the genome for measuring within-population diversity: trade-offs between markersMOLECULAR ECOLOGY, Issue 7 2002S. Mariette Abstract Experimental results of diversity estimates in a set of populations often exhibit contradictory patterns when different marker systems are used. Using simulations we identified potential causes for these discrepancies. These investigations aimed also to detect whether different sampling strategies of markers within the genome resulted in different estimates of the diversity at the whole genome level. The simulations consisted in generating a set of populations undergoing various evolutionary scenarios which differed by population size, migration rate and heterogeneity of gene flow. Population diversity was then computed for the whole genome and for subsets of loci corresponding to different marker techniques. Rank correlation between the two measures of diversity were investigated under different scenarios. We showed that the heterogeneity of genetic diversity either between loci (genomic heterogeneity, GH) or among populations (population heterogeneity, PH) varied greatly according to the evolutionary scenario considered. Furthermore, GH and PH were major determinants of the level of rank correlation between estimates of genetic diversities obtained using different kinds of markers. We found a strong positive relationship between the level of the correlation and PH, whatever the marker system. It was also shown that, when GH values were constantly low during generations, a reduced number of microsatellites was enough to predict the diversity of the whole genome, whereas when GH increased, more loci were needed to predict the diversity and amplified fragment length polymorphism markers would be more recommended in this case. Finally the results are discussed to recommend strategies for gene diversity surveys. [source] The usefulness of amplified fragment length polymorphism markers for taxon discrimination across graduated fine evolutionary levels in Caribbean Anolis lizardsMOLECULAR ECOLOGY, Issue 3 2002R. Ogden Abstract Fine-level taxon discrimination is important in biodiversity assessment and ecogeographical research. Genomic markers are often required for studies on closely related taxa, however, most existing mitochondrial and nuclear markers require prior knowledge of the genome and are impractical for use in small conservation projects. This study describes the application of amplified fragment length polymorphism (AFLP) to discriminate at four progressively finer evolutionary levels of Caribbean Anolis lizards from the central Lesser Antilles. AFLP is shown to be a rapid and effective method for discriminating between species. Separation increases with primer pair number and choice of primer combination appears to be noncritical. Initial population-level results show markedly less discriminatory power. A screening technique for the identification of population informative markers combining principal component and principal coordinate analyses is presented and assessed. Subsequent results show selected conspecific AFLP data to be remarkably congruent with those of mitochondrial DNA, microsatellite and morphological markers. The use of AFLP as a low-cost nuclear marker in species-level taxon discrimination is supported, whereas population level application demands further consideration. [source] Microsatellite isolation using amplified fragment length polymorphism markers: no cloning, no screeningMOLECULAR ECOLOGY, Issue 12 2000E. E. Hakki [source] Six diagnostic single nucleotide polymorphism markers for detecting introgression between cutthroat and rainbow troutsMOLECULAR ECOLOGY RESOURCES, Issue 3 2009AMANDA J. FINGER Abstract Ten primer pairs were screened to develop single nucleotide polymorphism (SNP) TaqMan assays that will distinguish California golden trout and some rainbow trouts (Oncorhynchus mykiss sspp., O. m. aguabonita) from the Paiute and Lahontan cutthroat trouts (Oncorhynchus clarkii seleniris, O. c. henshawi). From these 10 primer pairs, one mitochondrial and five nuclear fixed SNP differences were discovered and developed into TaqMan assays. These six assays will be useful for characterizing and monitoring hybridization between these groups. Additional Oncorhynchus clarkii sspp. and Oncorhynchus mykiss sspp. were assayed to determine if these assays are useful in closely related species. [source] Characterization of single nucleotide polymorphism markers for the green sea turtle (Chelonia mydas)MOLECULAR ECOLOGY RESOURCES, Issue 3 2009SUZANNE E. RODEN Abstract We present data on 29 new single nucleotide polymorphism assays for the green sea turtle, Chelonia mydas. DNA extracts from 39 green turtles were used for two methods of single nucleotide polymorphism discovery. The first approach employed an amplified fragment length polymorphism technique. The second technique screened a microsatellite library. Allele-specific amplification assays were developed for high-throughput single nucleotide polymorphism genotyping and tested on two Pacific C. mydas nesting populations. Observed heterozygosities ranged from 0 to 0.95 for a Hawaiian population and from 0 to 0.85 for a Galapagos population. Each of the populations had one locus out of Hardy,Weinberg equilibrium, SSCM2b and SSCM5 for Hawaii and Galapagos, respectively. No loci showed significant genotypic linkage disequilibrium across an expanded set of four Pacific nesting populations. However, two loci, SSCM4 and SSCM10b showed linkage disequilibrium across three populations indicating possible association. [source] Studies on the mechanism of resistance to Bipolaris sorokiniana in the barley lesion mimic mutant bst1MOLECULAR PLANT PATHOLOGY, Issue 5 2009MATTIAS PERSSON SUMMARY The Bipolaris sorokiniana tolerant 1 (bst1) barley mutant is derived from fast neutron-irradiated seeds of wild-type Bowman(Rph3). The induced mutation was genetically localized to a position on chromosome 5HL distal to the centromere using amplified fragment length polymorphism markers. In addition, the defence responses and related gene expression in the bst1 mutant after fungal challenge were compared with those occurring in wild-type plants. Hydrogen peroxide generation, determined by 3,3-diaminobenzidine staining, revealed a clearly reduced level of bst1, compared with the wild-type, during the entire experimental time: 8,120 h post-inoculation (hpi). At 48 hpi, the wild-type samples displayed twice as much fungal mass and three times greater H2O2 production than bst1. At the same time, staining of B. sorokiniana showed less fungal growth in the spontaneous lesions of bst1 compared with the wild-type. Monitoring of defence-related genes at 48 hpi demonstrated strong expression of PR-1a, PR-2, PR-5 and PR-10 in bst1. A gene coding for a unique oxidoreductase enzyme, designated as HCP1, was expressed at much higher levels in inoculated leaves of the bst1 mutant than in those of the wild-type plant. Taken together, the results suggest that the defence to B. sorokiniana largely relies on salicylic acid-responsive pathogenesis-related (PR) genes, as well as selected reactive oxygen species and unknown HCP1 -associated factors. [source] Development of STS markers and QTL validation for common bacterial blight resistance in common beanPLANT BREEDING, Issue 1 2008S. Liu Abstract Common bacterial blight (CBB) of common bean (Phaseolus vulgaris L.), is one of the major diseases that decrease yield and quality. A major quantitative trait locus (QTL) for CBB resistance from line XAN 159 was transferred into two bean lines, HR45 and HR67. Previous studies identified that two markers are linked to this QTL but the chromosome location was not consistent. To identify more tightly linked markers and to verify the chromosome location, 65 additional markers were mapped using 81 recombinant inbred lines (RILs) derived from a cross HR67 × OAC95-4. The QTL was mapped to a 13 cM region on chromosome 1 and defined by eight molecular markers that explained 25,52% of the phenotypic variation. Six tightly linked amplified fragment length polymorphism markers (0.6,9.7 cM from the QTL peak) were converted into seven sequence tagged site markers, three of which were mapped to this QTL. Five tightly linked markers were used to screen 907 F2 plants derived from a cross HR45 × ,OAC Rex' and four of them were linked to each other within 4.2 cM. These markers may be useful in marker-assisted selection and map-based cloning of this major QTL. [source] Development and characterization of SCAR markers associated with a dominant genic male sterility in rapeseedPLANT BREEDING, Issue 1 2008D. F. Hong Abstract Rs1046AB is a dominant genic male sterility (DGMS) line in rapeseed, in which the sterility has always been thought to be conditioned by the interaction of a male sterility gene (Ms) and its non-allelic restorer gene (Rf). This system provides not only a tool for assisting in recurrent selection but also a promising system for hybrid production. Based on previous studies, two amplified fragment length polymorphism markers linked with the Ms gene were converted into a dominant and a co-dominant sequence characterized amplified region (SCAR) marker, respectively. The putative linear order relationship of three dominant SCAR markers with the same genetic distance from the Rf gene, was also determined by an examination of whether the homologues of these markers are present or not in different lines carrying Rf. A bigger fragment generated by the closest marker linked to the Rf gene was observed in all lines carrying the recessive allele rf, suggesting that this marker is a co-dominant marker, which was further confirmed by nucleotide sequence comparison of these fragments. SCAR markers specific for Ms and Rf will be especially valuable in marker-assisted DGMS three-line breeding. [source] Genomic DNA fingerprints as a tool for identifying cultivated types of radicchio (Cichorium intybus L.) from Veneto, ItalyPLANT BREEDING, Issue 2 2003G. Barcaccia Abstract Red or variegated chicory (Cichorium intybus L., 2n = 2 ×= 18) native to, and very extensively cultivated in north-eastern Italy as a leafy vegetable, locally called ,radicchio', includes different types which represent valuable high-quality crops. The five major types of radicchio cultivated in the Veneto region were investigated by polymerase chain reaction (PCR)-derived markers. The experimental material was represented by two outbred populations (one of ,Variegato di Castel-franco' (CF) and one of ,Rosso di Verona' (VR)) and by eight inbred lines (three of early ,Rosso di Treviso' (TVP), three of late ,Rosso di Treviso' (TVT) and two of ,Rosso di Chioggia' (CH)). A total of 96 individual plant DNAs and 16 bulked DNAs of six plants each were assayed. The different types were well distinguished from one another if analysed by means of bulks using amplified fragment length polymorphism markers at the population level, while they were not if analysed at the individual level using random amplified polymorphic DNA, inter-simple sequence repeat and Arbitrarily Primed (AP)-PCR markers. The genetic variation was shown to be much higher within types than between types. This result suggests that, in each radicchio type, populations produced by breeders through controlled intercrossing (VR and CF) or repeated selfing (TVP, TVT and CH) conserved their well-separated gene pools over the years. The setting up of a molecular reference system seems to be feasible and suitable both for the precise identification of the single types of radicchio and for the evaluation of the extent of natural hybridization that can occur between different types. [source] Clustering of amplified fragment length polymorphism markers in a linkage map of ryePLANT BREEDING, Issue 2 2002B. Saal Abstract Amplified fragment length polymorphisms (AFLPs) are now widely used in DNA fingerprinting and genetic diversity studies, the construction of dense genetic maps and in fine mapping of agronomically important traits. The AFLP markers have been chosen as a source to extend and saturate a linkage map of rye, which has previously been generated by means of restriction fragment length polymorphism, random amplified polymorphic DNA, simple sequence repeat and isozyme markers. Gaps between linkage groups, which were known to be part of chromosome 2R, have been closed, thus allowing the determination of their correct order. Eighteen EcoRI- MseI primer combinations were screened for polymorphism and yielded 148 polymorphic bands out of a total of 1180. The level of polymorphism among the different primer combinations varied from 5.7% to 33.3%. Eight primer combinations, which revealed most polymorphisms, were further analysed in all individuals of the F2 mapping population. Seventy-one out of 80 polymorphic loci could be integrated into the linkage map, thereby increasing the total number of markers to 182. However, 46% of the mapped AFLP markers constituted four major clusters located on chromosomes 2R, 5R and 7R, predominantly in proximity to the centromere. The integration of AFLP markers caused an increase of 215 cM, which resulted in a total map length of almost 1100 cM. [source] The evolution of tropical adaptation: comparing taurine and zebu cattleANIMAL GENETICS, Issue 5 2010E. K. F. Chan Summary Beef cattle breeds consist of three major genetic subdivisions. The taurine group is adapted to temperate environments, and the zebu and Sanga groups are both adapted to tropical environments. With the advent of genotyping and sequencing technologies in agriculture, genome-wide exploration of the genetic basis for the differences in tropical adaptation has only just become possible. In this study, approximately 9000 single nucleotide polymorphism markers were genotyped on 317 animals of a selection of taurine, zebu, and composite breeds to characterize any systematic differences between these groups. We identified 91 intra-breed-class markers; 78 were polymorphic only within the zebu animals, while 13 were polymorphic only in the taurine animals. There were no fixed differences (fixed for alternate alleles between the two breed types) between zebu and taurine animals. We found 14 regions with significantly different allele frequencies between zebu and taurine animals indicative of variable selection pressure or genetic drift. We also found 12 independent regions of differential extended haplotype homozygosity (EHH), indicative of recent selection or rapid fixation of the alternate allele within a short period of time in one of the two breed classes. A preliminary functional genomics analysis of these regions pointed towards signatures of tropical attributes including keratins, heat-shock proteins and heat resistance genes. We anticipate this investigation to be a stepping-stone for future studies to identify genomic regions specific to the two cattle groups, and to subsequently assist in the discrimination between temperate and tropically adapted cattle. [source] A SNP/microsatellite genetic linkage map of the Atlantic cod (Gadus morhua)ANIMAL GENETICS, Issue 6 2009T. Moen Summary A first genetic linkage map of the Atlantic cod (Gadus morhua) was produced, based on segregation data from 12 full-sib families of Norwegian origin. The map contained 174 single nucleotide polymorphism markers and 33 microsatellites, distributed on 25 linkage groups and had a length of 1225 cM. A significant difference in recombination rates between sexes was found, the average ratio of female:male recombination rates being 1.78 ± 1.62 (SD). [source] Characterization of 20 single nucleotide polymorphism markers in the Pacific oyster (Crassostrea gigas)ANIMAL GENETICS, Issue 6 2009J. Bai No abstract is available for this article. [source] Linkage disequilibrium in the North American Holstein populationANIMAL GENETICS, Issue 3 2009E.-S. Kim Summary Linkage disequilibrium was estimated using 7119 single nucleotide polymorphism markers across the genome and 200 animals from the North American Holstein cattle population. The analysis of maternally inherited haplotypes revealed strong linkage disequilibrium (r2 > 0.8) in genomic regions of ,50 kb or less. While linkage disequilibrium decays as a function of genomic distance, genomic regions within genes showed greater linkage disequilibrium and greater variation in linkage disequilibrium compared with intergenic regions. Identification of haplotype blocks could characterize the most common haplotypes. Although maximum haplotype block size was over 1 Mb, mean block size was 26,113 kb by various definitions, which was larger than that observed in humans (,10 kb). Effective population size of the dairy cattle population was estimated from linkage disequilibrium between single nucleotide polymorphism marker pairs in various haplotype ranges. Rapid reduction of effective population size of dairy cattle was inferred from linkage disequilibrium in recent generations. This result implies a loss of genetic diversity because of the high rate of inbreeding and high selection intensity in dairy cattle. The pattern observed in this study indicated linkage disequilibrium in the current dairy cattle population could be exploited to refine mapping resolution. Changes in effective population size during past generations imply a necessity of plans to maintain polymorphism in the Holstein population. [source] Characterization of single-nucleotide polymorphism markers in the Mediterranean mussel, Mytilus galloprovincialisAQUACULTURE RESEARCH, Issue 10 2010Manuel Vera Abstract The Mediterranean mussel, Mytilus galloprovincialis, is one of the most important aquaculture species in Europe. Appropriate molecular markers are required to evaluate genetic resources and to trace genealogies in breeding programmes for improving mussel culture. Microsatellites have been commonly applied to this purpose in other species. However, Mediterranean mussel microsatellites have demonstrated high frequencies of null alleles that hamper accurate estimates of population parameters and confident parentage inferences. As alternative markers, we have characterized in silico 25 potential single-nucleotide polymorphism (SNP) markers in the Mediterranean mussel from expressed sequence tag (EST) public databases. The genotyping of SNPs was performed using a single-base extension approach. Their polymorphism was evaluated in 47 individuals from an Atlantic population. Out of the 25 potential SNPs tested, 12 were technically feasible (producing a single amplicon) and polymorphic. All were biallelic and had an unbiased heterozygosity ranging from 0.160 to 0.504. One SNP was from a mitochondrial gene. The combined potential of nuclear SNPs for parentage assignment gave an exclusion probability of a false couple of parents of 0.9471. These markers will be useful for evaluating resources and tracing genealogies in genetic breeding programmes implemented to solve the main problems of mussel culture. [source] Genome-wide linkage analysis of quantitative biomarker traits of osteoarthritis in a large, multigenerational extended familyARTHRITIS & RHEUMATISM, Issue 3 2010Hsiang-Cheng Chen Objective The genetic contributions to the multifactorial disorder osteoarthritis (OA) have been increasingly recognized. The goal of the current study was to use OA-related biomarkers of severity and disease burden as quantitative traits to identify genetic susceptibility loci for OA. Methods In a large multigenerational extended family (n = 350), we measured 5 OA-related biomarkers: hyaluronan (HA), cartilage oligomeric matrix protein (COMP), N-propeptide of type IIA collagen (PIIANP), C-propeptide of type II procollagen (CPII), and type II collagen neoepitope (C2C). Single-nucleotide polymorphism markers (n = 6,090) covering the whole genome were genotyped using the Illumina HumanLinkage-12 BeadChip. Variance components analysis, as implemented in the Sequential Oligogenic Linkage Analysis Routines, was used to estimate heritabilities of the quantitative traits and to calculate 2-point and multipoint logarithm of odds (LOD) scores using a polygenic model. Results After adjusting for age and sex, we found that 4 of the 5 biomarkers exhibited significant heritability (PIIANP 0.57, HA 0.49, COMP 0.43, C2C 0.30; P , 0.01 for all). Fourteen of the 19 loci that had multipoint LOD scores of >1.5 were near to or overlapped with previously reported OA susceptibility loci. Four of these loci were identified by more than 1 biomarker. The maximum multipoint LOD scores for the heritable quantitative biomarker traits were 4.3 for PIIANP (chromosome 8p23.2), 3.2 for COMP (chromosome 8q11.1), 2.0 for HA (chromosome 6q16.3), and 2.0 for C2C (chromosome 5q31.2). Conclusion Herein, we report the first evidence of genetic susceptibility loci identified by OA-related biomarkers in an extended family. Our results demonstrate that serum concentrations of PIIANP, HA, COMP, and C2C have substantial heritable components, and using these biomarkers, several genetic loci potentially contributing to the genetic diversity of OA were identified. [source] Genetic and phenotypic differences between thistle populations in response to habitat and weed management practicesBIOLOGICAL JOURNAL OF THE LINNEAN SOCIETY, Issue 4 2010RICCARDO BOMMARCO Rapid evolutionary change is increasingly being recognized as commonplace, but the evolutionary consequences for species and ecosystems under human-induced selection regimes have not been explored in detail, although many species occur in such environments. In a common garden experiment and with amplified fragment length polymorphism markers, we examined whether genetic differentiation has taken place between spatially intermixed populations of creeping thistles Cirsium arvense (Asteraceae) collected from a natural habitat (maritime shores), a semi-natural habitat (road verges) and arable fields under two management regimes: conventional and organic farming. Populations of C. arvense have altered genetically and locally adapted their growth patterns with changed land use. Although plants from different habitats showed similar total biomass production, shoot and root production was higher for maritime populations, suggesting selection for increased competitive ability. Competitive ability then declined in the order semi-natural, conventional farms and organic farms. Thistles in arable fields may be more selected for tolerance against disturbances from herbicides and mechanical weed control. In addition, early shoot sprouting and genetic analysis showed differentiation between plants originating from conventional farms and farms that were converted to organic 9,30 years ago, suggesting some adaptation to altered crop cultivation practices. © 2010 The Linnean Society of London, Biological Journal of the Linnean Society, 2010, 99, 797,807. [source] Putative common origin of two MLH1 mutations in Italian-Quebec hereditary non-polyposis colorectal cancer familiesCLINICAL GENETICS, Issue 2 2004I Thiffault Hereditary non-polyposis colorectal cancer (HNPCC) is one of the most common inherited cancer syndromes, accounting for 3,5% of all cases of colorectal cancer. In most HNPCC families, the disease is caused by a germline mutation in MLH1 or MSH2. In some populations, founder mutations appear to explain a substantial fraction of HNPCC. We report here the identification and preliminary characterization of two putative MLH1 founder mutations. The mutation MLH1c.1831delAT was shown to segregate in two Quebec families of Italian origin who fulfilled the Amsterdam criteria for HNPCC. Haplotype analysis using five intragenic microsatellite/single nucleotide polymorphism markers spanning MLH1 on chromosome 3 showed that these two unrelated families share an identical haplotype. In addition, two other Italian kindred whose affected members carry MLH1g.IVS6 + 3A>G also share a common haplotype, suggesting that, similarly, the latter mutation has a common origin. These mutations are the first putative founder MLH1 mutations to be identified in HNPCC kindred of Italian origin. [source] | ||||||||||||||||||||||||||||