Major Loci (major + locus)

Distribution by Scientific Domains

Selected Abstracts

Quantitative trait loci analysis of mineral element concentrations in an Arabidopsis halleri Arabidopsis lyrata petraea F2 progeny grown on cadmium-contaminated soil

Glenda Willems
Summary ,This study describes the quantitative trait locus (QTL) analysis of cadmium (Cd), zinc (Zn), iron (Fe), potassium (K), magnesium (Mg) and calcium (Ca) accumulation in the pseudometallophyte Arabidopsis halleri under conditions of Cd excess using an interspecific A. halleri Arabidopsis lyrata F2 population. ,Our data provide evidence for the implication of one major QTL in Cd hyperaccumulation in A. halleri, and suggests that Cd tolerance and accumulation are not independent in A. halleri. Moreover, the major loci responsible for Zn hyperaccumulation in the absence of Cd appear to be the same when Cd is present at high concentrations. ,More than twofold higher Fe concentrations were measured in A. halleri shoots than in A. lyrata, suggesting a different regulation of Fe accumulation in the hyperaccumulator. ,With the exception of Ca, the accumulation of Cd was significantly correlated with the accumulation of all elements measured in the F2 progeny, suggesting pleiotropic gene action. However, QTL analysis identified pleiotropic QTLs only for Cd, Zn and Fe. Mg accumulation was negatively correlated with Cd accumulation, as well as with dry shoot biomass, suggesting that it might indicate cellular damage. [source]

Variation of freezing tolerance, Cor/Lea gene expression and vernalization requirement in Japanese common wheat

PLANT BREEDING, Issue 5 2007
M. Ishibashi
Abstract Freezing tolerance and vernalization requirement are important traits for adaptation of wheat to growing in a high-latitude area. Fr-1 and Vrn-1, tightly linked on homoeologous group 5 chromosomes, are major loci for controlling the freezing tolerance and vernalization requirement, respectively. It was previously supposed that winter-habit wheat should possess a winter-type Fr-1 allele guaranteeing winter survival, but that such allele is unnecessary for spring-habit cultivars. To clarify such allelic linkage between the Vrn-1 and Fr-1 loci in the D genome, we studied freezing tolerance and vernalization requirement, and compared cold-responsive expression patterns of Cor (cold responsive)/Lea (late-embryogenesis-abundant), their putative transcription factor genes and three Vrn-1 homoeologs in Japanese common wheat cultivars. Wide variation of freezing tolerance and two alleles of Vrn-D1 were observed in the Japanese cultivars, whereas the accumulation levels of the Cor/Lea transcripts were not be correlated with the levels of freezing tolerance. The allelic linkage between Vrn-1 and Fr-1 loci well known in the A genome was not observed in the D genome of Japanese cultivars possessing Vrn-D1 or vrn-D1 allele. [source]

Fine mapping of the FecL locus influencing prolificacy in Lacaune sheep

L. Drouilhet
Summary In the Lacaune sheep population, two major loci influencing ovulation rate are segregating: FecX and FecL. The FecXL mutation is a non-conservative substitution (p.Cys53Tyr) in BMP15 that prevents the processing of the protein. Using a statistical approach, FecL has been shown to be an autosomal major gene. A full genome scan localized the FecL locus on sheep chromosome 11. Fine mapping reduced the interval containing FecL to markers BM17132 and FAM117A, corresponding to a synteny block of 1.1 megabases on human chromosome 17, which encompasses 20 genes. The expression of 16 genes from this interval was observed in tissues of the reproductive axis, but expression was not affected in homozygous FecLL females. In this interval, a unique haplotype was associated with the FecLL mutation. This particular haplotype could be predicted by the DLX3:c.*803A>G SNP in the 3, UTR sequence of the DLX3 gene. This SNP provided accurate classification of animals (99.5%) as carriers or non-carriers of the mutation and therefore maybe useful in marker assisted selection. A synergistic action of FecLL and FecXL mutations on both ovulation rate and litter size was demonstrated. Until now, all the Fec genes identified in sheep belong to the bone morphogenetic protein (BMP) system. Based on the human orthologous region, none of the 20 genes in the FecL region corresponds to known molecules in the BMP system. The identification of the FecLL mutation could lead to the discovery of a new pathway involved in the regulation of ovulation rate. [source]

Detection of QTL affecting harvest traits in a commercial Atlantic salmon population

R. D. Houston
Summary Genetic variation in performance and quality traits measured at harvest has previously been demonstrated in Atlantic salmon aquaculture populations. To map major loci underlying this variation, we utilized data from 10 families from a commercial breeding programme. Significant QTL were detected affecting harvest weight and length traits on linkage group 1, and affecting waste weight on linkage group 5. In total, 11 of the 29 linkage groups examined showed at least suggestive evidence for a QTL. These data suggest that major loci affecting economically important harvest characteristics are segregating in commercial salmon populations. [source]

Loci Contributing to Adult Height and Body Mass Index in African American Families Ascertained for Type 2 Diabetes

M.M. Sale
Summary Height and body mass index (BMI) have high heritability in most studies. High BMI and reduced height are well-recognized as important risk factors for a number of cardiovascular diseases. We investigated these phenotypes in African American families originally ascertained for studies of linkage with type 2 diabetes using self-reported height and weight. We conducted a genome wide scan in 221 families containing 580 individuals and 672 relative pairs of African American descent. Estimates of heritability and support for linkage were assessed by genetic variance component analyses using SOLAR software. The estimated heritabilities for height and BMI were 0.43 and 0.64, respectively. We have identified major loci contributing to variation in height on chromosomes 15 (LOD = 2.61 at 35 cM, p = 0.0004), 3 (LOD = 1.82 at 84 cM, p = 0.0029), 8 (LOD = 1.92 at 135 cM, p = 0.0024) and 17 (LOD = 1.70 at 110 cM, p = 0.0044). A broad region on chromosome 4 supported evidence of linkage to variation in BMI, with the highest LOD = 2.66 at 168 cM (p = 0.0005). Two height loci and two BMI loci appear to confirm the existence of quantitative trait loci previously identified by other studies, providing important replicative data to allow further resolution of linkage regions suitable for positional cloning of these cardiovascular disease risk loci. [source]

Over expression of a Cytochrome P450 (CYP6P9) in a Major African Malaria Vector, Anopheles Funestus, Resistant to Pyrethroids

D. A. Amenya
Abstract Anopheles funestus Giles is one of the major African malaria vectors. It has previously been implicated in a major outbreak of malaria in KwaZulu/Natal, South Africa, during the period 1996 to 2000. The re-emergence of this vector was associated with monooxygenase-based resistance to pyrethroid insecticides. We have identified a gene from the monooxygenase CYP6 family, CYP6P9, which is over expressed in a pyrethroid resistant strain originating from Mozambique. Quantitative Real-Time PCR shows that this gene is highly over expressed in the egg and adult stages of the resistant strain relative to the susceptible strain but the larval stages showed almost no difference in expression between strains. This gene is genetically linked to a major locus associated with pyrethroid resistance in this A. funestus population. [source]

Genetic loci influencing natural variations in femoral bone morphometry in mice,

Thomas A. Drake
This study identifies genetic loci affecting femoral bone length and width measures in mature mice. Sixteen month old female F2 progeny of a C57BL/6J and DBA/2J intercross were examined for femur length and width of the femoral head, intertrochanteric region and three locations of the diaphysis using digitized images of femur radiographs obtained in the anterior-posterior and lateral projections. A genome wide linkage map was constructed using microsatellite markers at an average density of 20 cM, and quantitative trait locus analysis used to identify regions of the genome showing linkage with the traits measured. Femur length showed significant linkage with loci on proximal chromosome 3 (lod 6.1), and suggestive linkage with a locus on chromosome 14. A major locus on mid-chromosome 7 controlled width of the diaphysis (lod 6.8). Other loci were identified on chromosomes 2 and 4. Width at the intertrochanteric region had suggestive linkage with loci on chromosomes 6 and 19. No loci were found with linkage for width of the femoral head. Candidate genes related to bone development or metabolism are present at most of these loci. These findings show that genetic regulation of femoral bone morphology is complex, and are consistent with the distinct biologic processes that control longitudinal and lateral growth of the femur. 2001 Orthopaedic Research Society. Punlished by Elsevier Science Ltd. All rights reserved. [source]

Analysis of the ,-sarcoglycan gene in familial and sporadic myoclonus-dystonia: Evidence for genetic heterogeneity

Enza-Maria Valente MD
Abstract The ,-sarcoglycan gene (SGCE) on human chromosome 7q21 has been reported to be a major locus for inherited myoclonus,dystonia. Linkage to the SGCE locus has been detected in the majority of families tested, and mutations in the coding region have been found recently in families with autosomal dominant myoclonus,dystonia. To evaluate the relevance of SGCE in myoclonus,dystonia, we sequenced the entire coding region of the ,-sarcoglycan gene in 16 patients with either sporadic or familial myoclonus,dystonia. No mutations were found. This study suggests that ,-sarcoglycan does not play an important role in sporadic myoclonus,dystonia and supports genetic heterogeneity in familial cases. 2003 Movement Disorder Society [source]

Sequence variants on chromosome 9p21.3 confer risk for atherosclerotic stroke,

Andreas Gschwendtner MD
Objective Recent studies have identified a major locus for risk for coronary artery disease and myocardial infarction on chromosome 9p21.3. Stroke, in particular, ischemic stroke caused by atherosclerotic disease, shares common mechanisms with myocardial infarction. We investigated whether the 9p21 region contributes to ischemic stroke risk. Methods In an initial screen, 15 single nucleotide polymorphisms (SNPs) covering the critical genetic interval on 9p21 were genotyped in samples from Southern Germany (1,090 cases, 1,244 control subjects) and the United Kingdom (758 cases, 872 control subjects, 3 SNPs). SNPs significantly associated with ischemic stroke or individual stroke subtypes in either of the screening samples were subsequently genotyped in 2,528 additional cases and 2,189 additional control subjects from Europe and North America. Results Genotyping of the screening samples demonstrated associations between seven SNPs and atherosclerotic stroke (all p < 0.05). Analysis of the full sample confirmed associations between six SNPs and atherosclerotic stroke in multivariate analyses controlling for demographic variables, coronary artery disease, myocardial infarction, and vascular risk factors (all p < 0.05). The odds ratios for the lead SNP (rs1537378-C) were similar in the various subsamples with a pooled odds ratio of 1.21 (95% confidence interval, 1.07,1.37) under both fixed- and random-effects models (p = 0.002). The point estimate for the population attributable risk is 20.1% for atherosclerotic stroke. Interpretation The chromosome 9p21.3 region represents a major risk locus for atherosclerotic stroke. The effect of this locus on stroke appears to be independent of its relation to coronary artery disease and other stroke risk factors. Our findings support a broad role of the 9p21 region in arterial disease. Ann Neurol 2009;65:531,539 [source]

A Maximum Likelihood-Based Method for Mining Major Genes Affecting a Quantitative Character

BIOMETRICS, Issue 3 2001
Rongling Wu
Summary. In this article, we present a maximum likelihood-based analytical approach for detecting a major gene of large effect on a quantitative trait in a progeny population derived from a mating design. Our analysis is based on a mixed genetic model specifying both major gene and background polygenic inheritance. The likelihood of the data is formulated by combining the information about population behaviors of the major gene during hybridization and its phenotypic distribution densities. The EM algorithm is implemented to obtain maximum likelihood estimates for population and quantitative genetic parameters of the major locus. This approach is applied to detect an overdominant gene governing stem volume growth in a factorial mating design of aspen trees. It is suggested that further molecular genetic research toward mapping single genes affecting aspen growth and production based on the same experimental data has a high probability of success. [source]