Single-nucleotide substitutions account for 95% of the mutational events in the VH gene, with small deletions and duplications accounting for most of the remaining. (lu.se)
Mutations2
Small duplications, substitutions, and small mutations have also been reported. (medscape.com)
are chromosomes with inversions and dominant marker mutations useful to maintain a lethal or sterile homologous chromosome or a segment thereof intact in a cross or stock. (kit.jp)
Translocation lines1
The Al tolerance of newly developed wheat/barley disomic addition, substitution and translocation lines carry chromosomes of three different barley cultivars was evaluated by comparing the root growth in solution containing 75 μM AlCl3 at pH 4.0 to that of known Al-tolerant and sensitive wheat genotypes. (scirp.org)
Amino acid2
The dnaN159 allele encodes a mutant form of the β-sliding clamp (β159) that bears two amino acid substitutions: G66E (glycine at position 66 replaced with glutamic acid) and G174A ( 14 , 35 , 38 ). (asm.org)
Genomic in situ hybridisation (GISH) showed the presence of rye germplasm in all the lines and identified three substitution lines, three double substitution lines and one addition-substitution line. (unboundmedicine.com)
Linkage mapping using different populations identified a major QTL in the genomic region that contains the gene Waxy ( Wx ) on chromosome 6. (biomedcentral.com)
Although some reference genomes are available for this clade, few are at the chromosome level, inhibiting high-resolution genomic studies. (biorxiv.org)
Commenting on the research efforts of Dr. Stelly, Dr. Jonathan Wendel of Iowa State University lauded his history of accomplishments: "His training was in classical plant cytogenetics, but over the years he has expanded into many different aspects of plant genomics, including comparative mapping, the development of new tools for germplasm characterization, the creation and genomic evaluation of chromosome substitution lines, and genome sequencing. (cottoninc.com)
This algorithm enabled the description of detailed mutation sequences in 20 highly dynamic regions in the human genome, and additional complex variants on chromosome Y. Six complex loci associate directly with a genomic disease, thereby highlighting in detail the intrinsic link between inversions and CNVs. (uni-heidelberg.de)
and an ectopic insertion into the VH from chromosome I. The results support the proposal that aberrant antibody hypermutation can lead to gross genomic alterations but indicate that such events are rare. (lu.se)
Locus5
In hexaploid wheat, hardness is largely controlled by the Ha locus on chromosome 5D. (cropscience.org.au)
1978) used chromosome substitution lines to determine the location of the major locus controlling hardness on the short arm of chromosome 5D. (cropscience.org.au)
2015). Chromosome substitution strain assessment of a Huntington's disease modifier locus . (up.pt)
The total part of the lineages of western Eurasian origin ("Caucasoid") was about 6% (4 haplotypes, haplogroups H, J, and U). Most of Y chromosomes in the Yakut population (87%) belonged to haplogroup N3 (HG16), delineated by the T-C substitution at the Tat locus. (blogspot.com)
The G6PD gene is located in the distal long arm of the X chromosome at the Xq28 locus. (medscape.com)
Gene2
[ 2 ] The defect in the X chromosome is proximal to the gene for factor VIII at Xq28. (medscape.com)
Other gene abnormalities have been found in PA and PMA, including a valine to glutamate substitution at position 600 (BRAF V600E mutation). (aao.org)
Recombinant1
We assigned DArT markers to individuď chromosome regions of F. pratensis using a series of single chromosome substitution and recombinant lines of E pratensis in Z. multiflorum. (cas.cz)
Molecular2
Seven different mildew resistant wheat lines derived from crosses between triticale and bread wheat were examined by molecular cytogenetics and chromosome C-banding in order to determine their chromosomal composition. (unboundmedicine.com)
6 There remain a group of around 15% of AS patients, both sporadic and familial, in whom no cytogenetic or molecular abnormality involving chromosome 15q11-13 can be identified. (bmj.com)
Barley1
I. Molnár, G. Linc, S. Dulai, E. D. Nagy and M. Molnár-Láng, "Ability of Chromosome 4H to Compensate for 4D in Response to Drought Stress in a Newly Developed and Identified Wheat-Barley 4H(4D) Disomic Subsitutiton Line," Plant Breeding, Vol. 126, No. 4, 2007, pp. 369-374. (scirp.org)
Encodes1
Thus far among the lamins, these have been described only for LMNA , which maps to chromosome 1q21.2 and encodes lamin A and lamin C through alternative splicing. (bmj.com)
Lines4
C-banding identified rye chromosomes 1R and 4R in the addition-substitution line, rye chromosomes 1R and 6R in two substitution lines and 1R and 2R in the third line, and rye chromosome 1R in the three substitution lines. (unboundmedicine.com)
The role of the rye chromosomes in the mildew resistance, the utilisation of the inverted 1R and the significance of the lines in wheat breeding are discussed. (unboundmedicine.com)
Quantitative trait loci (QTLs) for starch paste viscosity in rice were analyzed using chromosome segment substitution lines (CSSLs) developed from the two cultivars 9311 and Nipponbare, which have same Wx-b allele. (biomedcentral.com)
These community building efforts include research projects in chromosome substitution lines, SNP markers, and genome sequencing to name a few. (cottoninc.com)
Traits2
Minor QTLs controlling starch viscosity traits were identified by using the chromosome segment substitution strategy. (biomedcentral.com)
A total of 39 QTLs for growth habit-related traits was detected on 10 chromosomes explaining 4.55-27.74% of the phenotypic variance, in which 6 QTLs were for lateral branch angle, 8 QTLs were for extent radius, 7 QTLs were for the index of plant type, 11 QTLs were for main stem height, and 7 QTLs were for lateral branch length. (frontiersin.org)
Segment1
To determine mtDNA haplotypes, sequencing of hypervariable segment I and typing of haplotype-specific point substitutions in the other parts of the mtDNA molecule were performed. (blogspot.com)
Wheat3
A bread wheat line (N11) and a disomic 2D(2R) substitution triticale line have been crossed and backrossed four times. (preprints.org)
The pair of additional chromosomes consisted of the long arm of chromosome 1R (1RL) from rye fused with the satellite body of the wheat chromosome 6B. (preprints.org)
Tetraploid pasta wheat lacks the D genome, including chromosome 5D, and is therefore ultra-hard. (cropscience.org.au)
Genome1
Among these QTLs, 12 were co-localized on chromosome B05 spanning an approximately 0.17 Mb physical interval in comparison with the allotetraploid reference genome of "Tifrunner. (frontiersin.org)
Proximal1
The vgsc on chromosome 3 had the highest association, followed by genes proximal to vgsc. (cdc.gov)
Homozygous2
A boy with this disorder is described who has a homozygous R527H substitution in LMNA . (bmj.com)
Females can be symptomatic if they are homozygous or if their normal X chromosome is inactivated. (medscape.com)
Resistance3
A novel variant of Gh_D02G0276 is required for Root-Knot nematode resistance on chromosome 14 in Upland Cotton. (usda.gov)
Coupling of MIC-3 overexpression with the chromosome 11 and 14 root-knot nematode (RKN) (Meloidogyne incognita) resistance QTLs provides insights into the regulation of the RKN resistance response in Upland cotton. (usda.gov)
Replacement substitutions in the voltage-gated sodium channel (vgsc) that reduce the stability of pyrethroid binding account for most of the resistance but metabolic mechanisms also inactivate pyrethroids. (cdc.gov)
Mutation2
This paper describes computer simulations of small populations with variations in mutation rate and other factors, and produces results that are dramatically different than Haldane's low substitution limit except in certain limited situations). (uncommondescent.com)
The principal mutation accounting for type 1 HFE hemochromatosis is a substitution of tyrosine for cysteine at position 282 on chromosome 6, resulting in a mutation designated as C282Y. (medscape.com)
Genetic3
In order to evaluate the impact of genotype-by-Vit D interactions on EAE susceptibility, the researchers used a chromosome substitution mouse model (consomic) that involved the genetic diversity of wild-derived PWD/PhJ (PWD) mice. (ajmc.com)
Eighty five percent of patients with AS have an identifiable genetic abnormality of chromosome 15q11-13. (bmj.com)
A variety of different genetic mechanisms involving chromosome 15q11-13, a known imprinted region, have been described in association with AS. (bmj.com)
Distal1
This indicates that either the lack of the distal part of chromosome 2DL or the presence of the distal part of 1HS improved the Al tolerance level. (scirp.org)
Genes1
HPX8C) or within clusters in chromosome 2 (three esterase clusters, two of CYP) and chromosome 3 (one cluster of 16 CYP325 and seven CYP9 genes). (cdc.gov)
Proteins1
The G174A substitution appears to impair the ability of a hydrophobic cleft in β to interact with the eubacterial clamp-binding motif (QL[S/D]LF) that is conserved in most partner proteins reported to interact with the β clamp ( 8 , 38 ). (asm.org)
Complex1
However, when complex hybridization scenarios might explain a species' history, or when events are recent enough that coalescent methods cannot be used, haplotype-level information such as is provided by contiguous, chromosome-level assemblies can greatly improve our understanding of these events. (biorxiv.org)
Results1
1990. Chromosome aberration and sister chromatid exchange test results with 42 chemicals. (cdc.gov)
Patients2
5 Approximately 70% of patients have a de novo maternal deletion of chromosome 15q11-13, while 3% have uniparental paternal disomy for chromosome 15. (bmj.com)
Nous avons génotypé les deux polymorphismes mononucléotidiques du gène ADIPOQ chez 140 patients atteints de DNID sans lien de parenté et 66 témoins non diabétiques en recourant à l'analyse du polymorphisme de longueur des fragments de restriction par réaction en chaîne de polymérase. (who.int)
Female1
The structure of female (mtDNA) and male (Y-chromosome haplotypes) lineages in the Yakut population was examined. (blogspot.com)
Presence1
Chromosomes of haplogroup N3 displayed the presence of 19 microsatellite haplotypes, the most frequent of which encompassed 54% chromosomes of this haplogroup. (blogspot.com)