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Dominant Trait (dominant + trait)
Kinds of Dominant Trait Selected AbstractsBirth defects caused by mutations in human GLI3 and mouse Gli3 genesCONGENITAL ANOMALIES, Issue 1 2010Ichiro Naruse ABSTRACT GLI3 is the gene responsible for Greig cephalopolysyndactyly syndrome (GCPS), Pallister,Hall syndrome (PHS) and Postaxial polydactyly type-A (PAP-A). Genetic polydactyly mice such as Pdn/Pdn (Polydactyly Nagoya), XtH/XtH (Extra toes) and XtJ/XtJ (Extra toes Jackson) are the mouse homolog of GCPS, and Gli3tmlUrtt/Gli3tmlUrt is produced as the mouse homolog of PHS. In the present review, relationships between mutation points of GLI3 and Gli3, and resulting phenotypes in humans and mice are described. It has been confirmed that mutation in the upstream or within the zinc finger domain of the GLI3 gene induces GCPS; that in the post-zinc finger region including the protease cleavage site induces PHS; and that in the downstream of the GLI3 gene induces PAP-A. A mimicking phenomenon was observed in the mouse homolog. Therefore, human GLI3 and mouse Gli3 genes have a common structure, and it is suggested here that mutations in the same functional regions produce similar phenotypes in human and mice. The most important issue might be that GCPS and PHS exhibit an autosomal dominant trait, but mouse homologs, such as Pdn/Pdn, XtH/XtH, XtJ/XtJ and Gli3tmlUrt/Gli3tmlUrt, are autosomal recessive traits in the manifestation of similar phenotypes to human diseases. It is discussed here how the reduced amounts of the GLI3 protein, or truncated mutant GLI3 protein, disrupt development of the limbs, head and face. [source] Granulocyte function in patients with L-ferritin iron-responsive element (IRE) 39C,T-positive hereditary hyperferritinaemia,cataract syndromeEUROPEAN JOURNAL OF CLINICAL INVESTIGATION, Issue 10 2004R. Fritsche-Polanz Abstract Background, Hereditary hyperferritinaemia,cataract syndrome (HHCS) is an autosomal dominant trait associated with mutations in the iron responsive element (IRE) of the ferritin light-chain (L-ferritin) gene. Patients typically show elevated serum ferritin concentrations without iron overload and a bilateral cataract. Hyperferritinaemia can be associated with granulocyte dysfunction in patients with thalassemia beta and in haemodialysis patients. The effect of increased L-ferritin levels on granulocyte function in patients with HHCS is unknown. Material and methods, We examined glucose uptake, oxidative burst, chemotaxis, phagocytosis, apoptosis and intracellular calcium concentrations in polymorphonuclear leucocytes (PMNLs) of five affected members of a family with HHCS and in five healthy individuals matched for age and gender. Results, Mutation testing revealed a 39C,T transition in IRE in all five patients with HHCS. Serum ferritin levels of patients ranged between 907 and 2030 µg L,1, respectively. In comparison with healthy individuals, PMNLs of patients with HHCS showed a significant increase in PMA-mediated stimulation of the oxidative burst, as well as a significantly higher stimulation of glucose uptake but no difference with respect to chemotaxis, phagocytosis, apoptosis and intracellular calcium concentrations. Conclusion, In summary, our study suggests that hyperferritinaemia in patients with IRE 39C,T-positive HHCS is associated with activation of PMNLs but not with disturbance of fundamental PMNL function. [source] Familial chronic myeloproliferative disorders: the state of the art,HEMATOLOGICAL ONCOLOGY, Issue 3 2008Elisa Rumi Abstract Familial chronic myeloproliferative disorders are defined when in the same pedigree at least two relatives have a chronic myeloproliferative disorder (CMD) as polycythemia vera (PV), essential thrombocythemia (ET) or primary myelofibrosis (PMF). This condition should be distinguished from inherited disorders with Mendelian transmission and single haematopoietic lineage proliferation, named hereditary erythrocytosis and thrombocytosis. The recently discovered mutations in patients with CMD (V617F and exon 12 of JAK2 gene, MPL gene), and those identified in hereditary erythrocytosis and in hereditary thrombocytosis have improved our ability to discriminate these conditions. In familial CMD, the JAK2 mutations are acquired and occur as secondary genetic events. As both mutations of the JAK2 gene have been reported in the same pedigree, a genetic predisposition to the acquisition of the JAK2 mutations is supposed to be inherited. The prevalence of familial cases within CMD is at least 7.6%. The inheritance pattern of familial CMD is consistent with an autosomal dominant trait with decreased penetrance. The clinical presentation at diagnosis of patients with familial CMD does not differ from that of patients with sporadic CMD. In addition, patients with familial CMD develop the same type of complications (thrombosis and haemorrhage) and disease evolution (post-PV myelofibrosis, post-ET myelofibrosis and leukaemia) observed in patients with sporadic CMD. The 10-year survival is 83% for patients with familial PV, 100% for those with familial ET, and 30% for those with familial PMF. The aim of this review is to focus the state of the art of familial CMD and to offer an overview of inherited conditions causing erythrocytosis and thrombocytosis. Copyright © 2008 John Wiley & Sons, Ltd. [source] LDL-receptor mutations in Europe,HUMAN MUTATION, Issue 6 2004George V.Z. Dedoussis Abstract Familial hypercholesterolemia (FH) is a clinical definition for a remarkable increase of cholesterol serum concentration, presence of xanthomas, and an autosomal dominant trait of either increased serum cholesterol or premature coronary artery disease (CAD). The identification of the low-density lipoprotein (LDL)-receptor (LDLR) as the underlying cause and its genetic characterization in FH patients revealed more insights in the trafficking of LDL, which primarily transports cholesterol to hepatic and peripheral cells. Mutations within LDLR result in hypercholesterolemia and, subsequently, cholesterol deposition in humans to a variable degree. This confirms the pathogenetic role of LDLR and also highlights the existence of additional factors in determining the phenotype. Autosomal dominant FH is caused by LDLR deficiency and defective apolipoprotein B-100 (APOB), respectively. Heterozygosity of the LDLR is relatively common (1:500). Clinical diagnosis is highly important and genetic diagnosis may be helpful, since treatment is usually effective for this otherwise fatal disease. Very recently, mutations in PCSK9 have been also shown to cause autosomal dominant hypercholesterolemia. For autosomal recessive hypercholesterolemia, mutations within the so-called ARH gene encoding a cellular adaptor protein required for LDL transport have been identified. These insights emphasize the crucial importance of LDL metabolism intra- and extracellularly in determining LDL-cholesterol serum concentration. Herein, we focus on the published European LDLR mutation data that reflect its heterogeneity and phenotypic penetrance. Hum Mutat 24:443,459, 2004. © 2004 Wiley-Liss, Inc. [source] Identification of five chromosomal regions involved in predisposition to melanoma by genome-wide scan in the MeLiM swine modelINTERNATIONAL JOURNAL OF CANCER, Issue 1 2004Claudine Geffrotin Abstract In human familial melanoma, 3 risk susceptibility genes are already known, CDKN2A, CDK4 and MC1R. However, various observations suggest that other melanoma susceptibility genes have not yet been identified. To search for new susceptibility loci, we used the MeLiM swine as an animal model of hereditary melanoma to perform a genome scan for linkage to melanoma. Founders of the affected MeLiM stock were crossed with each other and with healthy Duroc pigs, generating MeLiM, F1 and backcross families. As we had previously excluded the MeLiM CDKN2A gene, we paid special attention to CDK4 and MC1R, as well as to other candidates such as BRAF and the SLA complex, mapping them on the swine radiation hybrid map and/or isolating close microsatellite markers to introduce them into the genome scan. The results revealed, first, that swine melanoma was inherited as an autosomal dominant trait with incomplete penetrance, preferably in black animals. Second, 4 chromosomal regions potentially involved in melanoma susceptibility were identified on Sus Scrofa chromosomes (SSC) 1, 2, 7 and 8, respectively, in intervals 44,103, 1.9,18, 59,73 and 47,62 cM. A fifth region close to MC1R was revealed on SSC 6 by analyzing an individual marker located at position 7.5 cM. Lastly, CDK4 and BRAF were unlikely to be melanoma susceptibility genes in the MeLiM swine model. The 3 regions on SSC 1, 6 and 7, respectively, have counterparts on human chromosomes (HSA) 9p, 16q and 6p, harboring melanoma candidate loci. The 2 others, on SSC 2 and 8, have counterparts on HSA 11 and 4, which might therefore be of interest for human studies. © 2004 Wiley-Liss, Inc. [source] Peutz,Jeghers syndrome in a 14-year-old boy: case report and review of the literatureINTERNATIONAL JOURNAL OF PAEDIATRIC DENTISTRY, Issue 3 2005C. M. PEREIRA Summary., Peutz,Jeghers syndrome (PSJ) is a relatively rare but well-recognized condition, with a prevalence of approximately one in 120 000 births in the USA. It is generally inherited as an autosomal dominant trait, although 35% of cases are new mutations. This disorder is characterized by melanocytic macules on the hands, feet, peri,oral skin and oral mucosa, and multiple gastrointestinal hamartomatous polyps. People with PSJ have an increased risk for developing a variety of malignant tumours. The aim of the present study was to report one case of PSJ in a 14-year-old boy with mucocutaneous pigmentation associated with duodenal hamartomatous polyps. [source] Craniofacial morphology in patients with hypophosphataemic vitamin-D-resistant rickets: a cephalometric studyJOURNAL OF ORAL REHABILITATION, Issue 7 2009S. H. AL-JUNDI Summary, Hypophosphataemic vitamin-D-resistant rickets (HVDRR) is a hereditary disease mainly transmitted as an X-linked dominant trait and characterized by certain general clinical signs (Filho HM, de Castro LC, Damiani D. Arq Bras Endocrinol Metab. 2006;50:802). In literature, only one study had been published in 1965 on the cephalometric findings in patients with HVDRR (Marks SC, Lindahl RL, Bawden JW. J Dent Child. 1965;32:259). This is the first detailed study on craniofacial characteristics of patients with HVDRR in the dental literature. The aim of this study was to determine the effect of HVDRR on the parameters of the craniofacial skeleton of young Jordanian patients using cephalometric analysis. Lateral cephalometric radiographs were made for 22 Jordanian children (aged 2,16 years) diagnosed with HVDRR. The cephalometeric parameters of HVDRR group were compared with those of normal control group matched for gender and chronological age using paired t -test. The HVDRR group had a significant increase in the SNBa angle (P < 0·01); as well as reduced anterior cranial base length (P = 0·01), reduced maxillary length, corpus mandibular length and mandibular height (P = 0·01, 0·04 and 0·008 respectively). The cranial base and gonial angles were significantly increased in diseased individual, but the SNA and ANB angles were significantly reduced (P = 0·018 and 0·000 respectively). The angulation of the lower incisor to mandibular plane was also significantly reduced in the diseased group compared with Jordanian norm (P = 0·004). Patients with HVDRR have deficiency in the anterior cranial base length, ramus height and cranial base angle. Patients with HVDRR also have class III skeletal relationship. [source] Cowden's syndrome (multiple hamartoma and neoplasia syndrome): diagnostic dilemmas in three casesORAL DISEASES, Issue 4 2000SI Chaudhry Cowden's syndrome is a multisystem disease inherited as an autosomal dominant trait with incomplete penetrance and variable expression. The disease has typical oral manifestations which often precede more systemic involvement, and the dental professional is therefore well placed to institute a regime of regular checks to ensure early treatment of any neoplasms which may occur. However, since not all of the classical signs are present in all patients, diagnosis may be difficult. The case report of a patient with most of the features of Cowden's syndrome is presented and features compared with two other possible cases. [source] Unusual presentation of a hypoglossal nerve neurofibromaORAL SURGERY, Issue 4 2009V. Patel Abstract Neurofibromatosis type 1 genetic disorder is an inherited autosomal dominant trait with variable penetrance and expressivity and occurs in one of every 2000,3300 live births. Neurofibromatosis type 2, on the other hand, afflicts only one in approximately 50 000 people. Within these patients, the frequency of intra-oral involvement of neurofibromas has been reported in a range of 4,7%. Alternatively, neurofibromas in the oral cavity minus the presence of a neurofibromatosis disease has been documented but the prevalence is even less than stated earlier making a solitary neurofibroma of the tongue a rare occurrence. This article reports an unusual presentation of a neurofibroma masquerading as a lipoma with the tumour occurring at the base of the tongue. [source] Detection of a novel silent deletion, a missense mutation and a nonsense mutation in TCOF1PEDIATRICS INTERNATIONAL, Issue 6 2008Hirotaka Fujioka Abstract Background: Treacher Collins syndrome (TCS) is a disorder of craniofacial development, that is caused by mutations in the TCOF1 gene. TCS is inherited as an autosomal dominant trait, and haploinsufficiency of the TCOF1 gene product treacle is proposed to be etiologically involved. Methods: Mutational analysis of the TCOF1 gene was done in 10 patients diagnosed with TCS using single-strand conformation polymorphism and direct sequencing. Results: Among these 10 patients, a novel 9 bp deletion was found, together with a previously reported 2 bp deletion, a novel missense mutation and a novel nonsense mutation in three different families. Familial studies allowed judgment of whether these abnormal findings were responsible for the TCS phenotype, or not. The 9 bp deletion of three amino acids Lys-Glu-Lys (1378,1380), which was located in the nuclear localization domain of treacle, seemed not essential for the treacle function. In contrast, the novel mutation of Ala26Val is considered to affect the LisH domain, an important domain of treacle. All of the mutations thus far detected in exon 5 have resulted in frameshift, but a nonsense mutation was detected (Lys159Stop). Conclusion: The information obtained in the present study provides additional insights into the functional domains of treacle. [source] Inheritance mode and realized heritability of resistance to imidacloprid in the brown planthopper, Nilaparvata lugens (Stål) (Homoptera: Delphacidae)PEST MANAGEMENT SCIENCE (FORMERLY: PESTICIDE SCIENCE), Issue 6 2009Yan Hua Wang Abstract BACKGROUND: The brown planthopper, Nilaparvata lugens (Stål), is a serious pest that causes enormous losses to the rice crop in Asia. The genetic basis of imidacloprid resistance was investigated in N. lugens. RESULTS: The resistant strain, selected for imidacloprid resistance from a field population of N. lugens collected from Nanjing, Jiangsu Province, China, showed a 964-fold resistance compared with the laboratory strain. Progenies of reciprocal crosses (F1 and F1,) showed similar dose,mortality responses (LC50) to imidacloprid, and also exhibited a similar degree of dominance (D), 0.58 for F1 and 0.63 for F1,. Chi-square analyses of self-bred and backcross progenies (F2, F2, and BC respectively) rejected the hypothesis for a single gene control of the resistance. The estimated realized heritability (h2) of imidacloprid resistance was 0.1141 in the resistant strain of N. lugens. CONCLUSION: The results showed that imidacloprid resistance in N. lugens was autosomal and was expressed as an incompletely dominant trait, probably controlled by multiple genes. Copyright © 2009 Society of Chemical Industry [source] Cross-resistance and inheritance of resistance to Bacillus thuringiensis toxin Cry1Ac in diamondback moth (Plutella xylostella L) from lowland MalaysiaPEST MANAGEMENT SCIENCE (FORMERLY: PESTICIDE SCIENCE), Issue 5 2001Ali H Sayyed Abstract A field population of Plutella xylostella from Malaysia (SERD4) was divided into five sub-populations and four were selected (G2,G5) with the Bacillus thuringiensis insecticidal crystal (Cry) toxins Cry1Ac, Cry1Ab, Cry1Ca and Cry1Da. Bioassay at G6 gave resistance ratios of 88, 5, 2 and 3 for Cry1Ac, Cry1Ab, Cry1Ca and Cry1Da respectively compared with the unselected sub-population (UNSEL-SERD4). The Cry1Ac-selected population showed little cross-resistance to Cry1Ab, Cry1Ca and Cry1Da, (3-, 2- and 3-fold compared with UNSEL-SERD4), whereas the Cry1Ab-SEL sub-population showed marked cross-resistance to Cry1Ac (40-fold), much greater than Cry1Ab itself. In contrast, the Cry1Ca- and Cry1Da-SEL sub-populations showed little if any cross-resistance to Cry1Ac and Cry1Ab. The mode of inheritance of resistance to Cry1Ac was examined in Cry1Ac-selected SERD4 by standard reciprocal crosses and back-crosses using a laboratory insecticide-susceptible population (ROTH). Logit regression analysis of F1 reciprocal crosses indicated that resistance to Cry1Ac was inherited as an incompletely dominant trait. At the highest dose of Cry1Ac tested, resistance was recessive, while at the lowest dose it was almost completely dominant. The F2 progeny from a back-cross of F1 progeny with ROTH were tested with a concentration of Cry1Ac that would kill 100% of ROTH. The mortality ranged between 50 and 95% in seven families of back-cross progeny, which indicated that more than one allele on separate loci were responsible for resistance to Cry1Ac. © 2001 Society of Chemical Industry [source] Hydrops fetalis in three male fetuses of a female with incontinentia pigmentiPRENATAL DIAGNOSIS, Issue 12 2001Andreas Dufke Abstract Objectives Careful investigation of hydrops fetalis (HF) is important with regard to genetic counselling and prenatal diagnosis. HF is known to be associated with various genetic disorders. To date there has been only one report of a male fetus in whom incontinentia pigmenti (IP) was associated with generalised oedema. We describe a family who had a girl with clinical signs of IP after three consecutive miscarriages of three male fetuses due to HF. Results Molecular genetic analysis showed a mutation in the NEMO/IKK, gene in the girl and the mother, which confirmed the diagnosis of IP in both cases. In the two fetuses that could be investigated, inheritance of the affected maternal X chromosome could be demonstrated retrospectively by linkage analysis. Conclusion The present findings suggest that IP might be an X-linked dominant trait causing HF in male fetuses. In cases of recurrent HF in male fetuses, minimal signs of IP in the maternal line should therefore be carefully investigated in order to be able to perform mutational analysis and to offer appropriate genetic counselling. Copyright © 2001 John Wiley & Sons, Ltd. [source] The variant red coat colour phenotype of Holstein cattle maps to BTA27ANIMAL GENETICS, Issue 1 2010D. L. Dreger Summary The variant red phenotype in Holstein cattle is indistinguishable from the traditional e/e recessive red phenotype caused by a mutation in melanocortin 1 receptor, but is inherited as a dominant trait in relation to black. Co-segregation analysis in four half-sib families segregating for variant red was conducted, excluding melanocortin 1 receptor, agouti signalling protein, attractin and melatonin receptor 1A as causative genes. However, variant red co-segregated with markers in a region of BTA27 that includes beta-defensin 103 (DEFB103). Two newly identified microsatellites and 5 SNPs 5, of DEFB103 were used for linkage mapping in four segregating families (LOD = 3.26). One haplotype was inherited in VR cattle in a 6-generation pedigree. [source] A GYS1 gene mutation is highly associated with polysaccharide storage myopathy in Cob Normand draught horsesANIMAL GENETICS, Issue 1 2009B. Herszberg Summary Glycogen storage diseases or glycogenoses are inherited diseases caused by abnormalities of enzymes that regulate the synthesis or degradation of glycogen. Deleterious mutations in many genes of the glyco(geno)lytic or the glycogenesis pathways can potentially cause a glycogenosis, and currently mutations in fourteen different genes are known to cause animal or human glycogenoses, resulting in myopathies and/or hepatic disorders. The genetic bases of two forms of glycogenosis are currently known in horses. A fatal neonatal polysystemic type IV glycogenosis, inherited recessively in affected Quarter Horse foals, is due to a mutation in the glycogen branching enzyme gene (GBE1). A second type of glycogenosis, termed polysaccharide storage myopathy (PSSM), is observed in adult Quarter Horses and other breeds. A severe form of PSSM also occurs in draught horses. A mutation in the skeletal muscle glycogen synthase gene (GYS1) was recently reported to be highly associated with PSSM in Quarter Horses and Belgian draught horses. This GYS1 point mutation appears to cause a gain-of-function of the enzyme and to result in the accumulation of a glycogen-like, less-branched polysaccharide in skeletal muscle. It is inherited as a dominant trait. The aim of this work was to test for possible associations between genetic polymorphisms in four candidate genes of the glycogen pathway or the GYS1 mutation in Cob Normand draught horses diagnosed with PSSM by muscle biopsy. [source] Premature arthritis is a distinct type II collagen phenotypeARTHRITIS & RHEUMATISM, Issue 5 2010Peter Kannu Mutations in the gene encoding type II collagen (COL2A1) give rise to a spectrum of phenotypes predominantly affecting cartilage and bone. These chondrodysplasias are typically characterized by disproportionately short stature, eye abnormalities, cleft palate, and hearing loss. It is less recognized that mutations in COL2A1 can also present as degenerative joint disease in the absence of any other phenotypic clues. We report 2 Australian families presenting with an isolated arthritis phenotype, segregating as a dominant trait affecting both large and small joints, prior to age 30 years. Sequencing of COL2A1 in the propositi revealed 2 sequence changes resulting in glycine substitutions in the triple-helical domain of type II collagen. We review the increasing evidence implicating COL2A1 mutations in individuals presenting with isolated degenerative joint disease, aiming to alert physicians who assess these patients to this possibility. The importance of finding a COL2A1 mutation in such patients lies in the subsequent ability to accurately assess recurrence risks, offer early (including prenatal) diagnosis, and provide information regarding the natural history of the condition. Most importantly, it enables at-risk individuals to be identified for implementation of preventative strategies (i.e., weight loss, joint-friendly exercise programs) and early ameliorative management of their condition. [source] Clinical heterogeneity in recessive epidermolysis bullosa due to mutations in the keratin 14 gene, KRT14CLINICAL & EXPERIMENTAL DERMATOLOGY, Issue 6 2008E. Yiasemides Summary Background., Epidermolysis bullosa simplex (EBS), the most common subtype of EB, is usually inherited as an autosomal dominant trait caused by mutations in either the keratin 5 (KRT5) or keratin 14 (KRT14) genes. Recessive EBS (R-EBS) is extremely rare. Methods., We present the first Australian patient diagnosed with R-EBS, to our knowledge, and a comprehensive review of genotypes and phenotypes of R-EBS reported cases. Results., The female proband, of Turkish descent with consanguineous parentage, was referred to us at the age of 8 years. Clinically, she had a severe phenotype including generalized blisters, mucosal involvement and EB naevi. Immunofluorescence mapping and electron microscopy were consistent with a diagnosis of EBS. Staining for Keratin 14 (K14) was negative. The basal layer, however, reacted with monoclonal antibodies to keratins 6 (K6) and 16 (K16). Mutation screening from genomic DNA showed that the proband was homozygous for the truncation mutation Y204X in exon 3 of KRT14, and both unaffected parents were heterozygous for a single KRT14 Y204X mutation. The phenotype of our patient is reported in more detail and with longer follow-up than those of others published in the literature. Discussion., The proband's phenotype was severe as an infant but improved with age, suggesting that an alternative keratin is pairing with K5 in her skin to compensate for the loss of K14 , a novel biological compensatory mechanism. It is interesting that K6 and K16 were expressed, as these are normally positive in hyperproliferative skin disorders. [source] Plant functional type classifications in tropical dry forests in Costa Rica: leaf habit versus taxonomic approachesFUNCTIONAL ECOLOGY, Issue 4 2010Jennifer S. Powers Summary 1.,One way to simplify the high taxonomic diversity of plant species in vegetation models is to place species into groups based on shared, dominant traits. Many studies have suggested that morphological and physiological traits of tropical dry forest tree species vary with leaf habit (i.e. leaves from evergreen, deciduous or semi-deciduous species) and thus this characteristic may serve as a useful way to distinguish ecologically meaningful functional types. 2.,In this study we examine whether 10 plant traits vary with leaf habit in replicated leaves and individual trees of 87 species from a tropical dry forest in Costa Rica. We also looked for evidence of phylogenetic conservatism, i.e. closely related species sharing similar trait values compared to more distantly related taxa. 3.,While some of the traits varied within and among individual trees of the same species, interspecific variation accounted for 57,83% of the variance among samples. Four traits in addition to leaf habit showed evidence of phylogenetic conservatism, but these results were strongly dependent on the inclusion of the 18 species of legumes (Fabaceae) in our dataset. Contrary to our predictions, none of the traits we measured differed among leaf habits. However, five traits (wood density, leaf C, leaf N, N/P and C/N) varied significantly between legumes and other functional types. Furthermore, when all high-nitrogen non-legume taxa were compared to the high-nitrogen legumes, six traits excluding leaf N differed significantly, indicating that legumes are functionally different from other tree species beyond high N concentrations. Similarly, the 18 legume taxa (which all have compound leaves) also differed from other compound-leaved species for six traits, thus leaf type does not explain these patterns. 4.,Our main conclusions are that (i) a plant functional type classification based on leaf habit alone has little utility in the tropical dry forest we studied, and (ii) legumes have a different suite of traits including high leaf carbon and wood density in addition to high leaf nitrogen. Whether this result generalizes to other tropical forests is unknown, but merits future research due to the consequences of these traits for carbon storage and ecosystem processes. [source] Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures,,HUMAN MUTATION, Issue 3 2005Angela M. Kaindl Abstract Microdeletion syndromes are commonly transmitted as dominant traits and are frequently associated with variably expressed pleiotropic phenotypes. Nonlethal homozygous microdeletions, on the other hand, are very rare. Here, we delineate the fifth and so far largest homozygous microdeletion in nonmalignancies of approximately 400 kb on chromosome 4q11-q12 in a large consanguineous East-Anatolian family with six affected patients. The deleted region contains the beta-sarcoglycan gene (SGCB), the predicted gene SPATA18 (spermatogenesis associated 18 homolog) and several expressed sequence tags. Patients presented with a severe and progressive Duchenne-like muscular dystrophy phenotype, a combination of hyperlaxity and joint contractures, chest pain, palpitations, and dyspnea. © 2005 Wiley-Liss, Inc. [source] Structure of the lamin A/C R482W mutant responsible for dominant familial partial lipodystrophy (FPLD)ACTA CRYSTALLOGRAPHICA SECTION F (ELECTRONIC), Issue 7 2009Eugenia Magracheva Proteins of the A-type lamin family, which consists of two members, lamin A and lamin C, are the major components of a thin proteinaceous filamentous meshwork, the lamina, that underlies the inner nuclear membrane. A-type lamins have recently become the focus of extensive functional studies as a consequence of the linking of at least eight congenital diseases to mutations in the lamin A/C gene (LMNA). This spectrum of pathologies, which mostly manifest themselves as dominant traits, includes muscle dystrophies, dilated cardiomyopathies, the premature aging syndrome Hutchinson,Guilford progeria and familial partial lipodystrophy (FPLD). The crystal structure of the lamin A/C mutant R482W, a variant that causes FPLD, has been determined at 1.5,Å resolution. A completely novel aggregation state of the C-terminal globular domain and the position of the mutated amino-acid residue suggest means by which the mutation may affect lamin A/C,protein and protein,DNA interactions. [source] | ||||||||||||||||