scholarly journals Mapping of susceptible variants for cold medicine-related Stevens–Johnson syndrome by whole-genome resequencing

2021 ◽  
Vol 6 (1) ◽  
Author(s):  
Yosuke Kawai ◽  
Yuki Hitomi ◽  
Mayumi Ueta ◽  
Seik-Soon Khor ◽  
Ken Nakatani ◽  
...  
Keyword(s):  
Rare Variants ◽  
Genetic Variations ◽  
Genome Wide Association ◽  
Stevens Johnson Syndrome ◽  
Whole Genome ◽  
Nucleotide Polymorphisms ◽  
Severe Condition ◽  
Genome Wide ◽  
Johnson Syndrome ◽  
Whole Genome Resequencing

AbstractStevens–Johnson syndrome (SJS) and its severe condition with extensive skin detachment and a poor prognosis, toxic epidermal necrolysis (TEN), are immunologically mediated severe cutaneous reactions of the skin and mucous membranes such as the ocular surface. Genetic variations on theHLA-Aand other autosomal genes have been identified as risk factors for cold medicine-related SJS/TEN with severe ocular complications (CM-SJS/TEN with SOC). Using a whole-genome sequencing (WGS) approach, we explored other susceptible variants of CM-SJS/TEN with SOC, especially among rare variants and structural variants (SVs). WGS was performed on samples from 133 patients with CM-SJS/TEN with SOC and 418 healthy controls to obtain single nucleotide polymorphisms (SNPs) and SVs. Genome-wide association tests were performed with these variants. Our genome-wide association test reproduced the associations of the common variants ofHLA-Aand loci on chromosome 16q12.1. We also identified novel associations of SVs on these loci and an aggregation of rare coding variants on theTPRM8gene. In silico gene expression analysis on theHLA-Alocus revealed that the SNP (rs12202296), which was significantly associated with susceptibility to CM-SJS/TEN with SOC, was correlated to an increase inHLA-Aexpression levels in the whole blood (P = 2.9 × 10−17), from the GTEx database. The majority of variants that were significantly associated with CM-SJS/TEN with SOC were found in non-coding regions, indicating the regulatory role of genetic variations in the pathogenesis of CM-SJS/TEN with SOC.

scholarly journals Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe

2011 ◽  
Vol 6 (1) ◽  
pp. 52 ◽  
Author(s):  
Emmanuelle Génin ◽  
Martin Schumacher ◽  
Jean-Claude Roujeau ◽  
Luigi Naldi ◽  
Yvonne Liss ◽  
...  
Keyword(s):  
Association Study ◽  
Toxic Epidermal Necrolysis ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Stevens Johnson Syndrome ◽  
Genome Wide ◽  
Johnson Syndrome

scholarly journals A Y-linked anti-Müllerian hormone type-II receptor is the sex-determining gene in ayu, Plecoglossus altivelis

PLoS Genetics ◽  
2021 ◽  
Vol 17 (8) ◽  
pp. e1009705
Author(s):  
Masatoshi Nakamoto ◽  
Tsubasa Uchino ◽  
Eriko Koshimizu ◽  
Yudai Kuchiishi ◽  
Ryota Sekiguchi ◽  
...  
Keyword(s):  
Genotyping By Sequencing ◽  
Genome Wide Association ◽  
Whole Genome ◽  
Type Ii ◽  
Genome Resequencing ◽  
Plecoglossus Altivelis ◽  
Genome Wide ◽  
Males And Females ◽  
Whole Genome Resequencing ◽  
Male Specific

Whole-genome duplication and genome compaction are thought to have played important roles in teleost fish evolution. Ayu (or sweetfish), Plecoglossus altivelis, belongs to the superorder Stomiati, order Osmeriformes. Stomiati is phylogenetically classified as sister taxa of Neoteleostei. Thus, ayu holds an important position in the fish tree of life. Although ayu is economically important for the food industry and recreational fishing in Japan, few genomic resources are available for this species. To address this problem, we produced a draft genome sequence of ayu by whole-genome shotgun sequencing and constructed linkage maps using a genotyping-by-sequencing approach. Syntenic analyses of ayu and other teleost fish provided information about chromosomal rearrangements during the divergence of Stomiati, Protacanthopterygii and Neoteleostei. The size of the ayu genome indicates that genome compaction occurred after the divergence of the family Osmeridae. Ayu has an XX/XY sex-determination system for which we identified sex-associated loci by a genome-wide association study by genotyping-by-sequencing and whole-genome resequencing using wild populations. Genome-wide association mapping using wild ayu populations revealed three sex-linked scaffolds (total, 2.03 Mb). Comparison of whole-genome resequencing mapping coverage between males and females identified male-specific regions in sex-linked scaffolds. A duplicate copy of the anti-Müllerian hormone type-II receptor gene (amhr2bY) was found within these male-specific regions, distinct from the autosomal copy of amhr2. Expression of the Y-linked amhr2 gene was male-specific in sox9b-positive somatic cells surrounding germ cells in undifferentiated gonads, whereas autosomal amhr2 transcripts were detected in somatic cells in sexually undifferentiated gonads of both genetic males and females. Loss-of-function mutation for amhr2bY induced male to female sex reversal. Taken together with the known role of Amh and Amhr2 in sex differentiation, these results indicate that the paralog of amhr2 on the ayu Y chromosome determines genetic sex, and the male-specific amh-amhr2 pathway is critical for testicular differentiation in ayu.

scholarly journals Genome-Wide Association Study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe

2014 ◽  
pp. 195-215
Author(s):  
Emmanuelle Génin ◽  
Martin Schumacher ◽  
Jean-Claude Roujeau ◽  
Luigi Naldi ◽  
Yvonne Liss ◽  
...  
Keyword(s):  
Association Study ◽  
Toxic Epidermal Necrolysis ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Stevens Johnson Syndrome ◽  
Genome Wide ◽  
Johnson Syndrome

scholarly journals Whole-Genome Resequencing of Near-Isogenic Lines Reveals a Genomic Region Associated with High Trans-Lycopene Contents in Watermelon

Plants ◽  
2021 ◽  
Vol 11 (1) ◽  
pp. 8
Author(s):  
Siyoung Lee ◽  
Girim Park ◽  
Yunseo Choi ◽  
Seoyeon Park ◽  
Hoytaek Kim ◽  
...  
Keyword(s):  
Genomic Region ◽  
Whole Genome ◽  
Nucleotide Polymorphisms ◽  
Near Isogenic Lines ◽  
Genome Resequencing ◽  
Isogenic Lines ◽  
Genome Wide ◽  
Donor Parent ◽  
Caps Markers ◽  
Whole Genome Resequencing

Trans-lycopene is a functional phytochemical abundant in red-fleshed watermelons, and its contents vary among cultivars. In this study, the genetic basis of high trans-lycopene contents in scarlet red flesh was evaluated. Three near-isogenic lines (NILs) with high trans-lycopene contents were derived from the scarlet red-fleshed donor parent DRD and three coral red-fleshed (low trans-lycopene contents) recurrent parents. The lycopene contents of DRD (589.4 ± 71.8 µg/g) were two times higher than that of the recurrent parents, and values for NILs were intermediate between those of the parents. Coral red-fleshed lines and F1 cultivars showed low trans-lycopene contents (135.7 ± 18.0 µg/g to 213.7 ± 39.5 µg/g). Whole-genome resequencing of two NILs and their parents and an analysis of genome-wide single-nucleotide polymorphisms revealed three common introgressed regions (CIRs) on chromosomes 6, 9, and 10. Twenty-eight gene-based cleaved amplified polymorphic sequence (CAPS) markers were developed from the CIRs. The CAPS markers derived from CIR6 on chromosome 6, spanning approximately 1 Mb, were associated (R2 = 0.45–0.72) with the trans-lycopene contents, particularly CIR6-M1 and CIR6-M4. Our results imply that CIR6 is a major genomic region associated with variation in the trans-lycopene contents in red-fleshed watermelon, and CIR6-M1 and CIR6-M4 may be useful for marker-assisted selection.

scholarly journals Accelerated deciphering of the genetic architecture of agricultural economic traits in pigs using a low-coverage whole-genome sequencing strategy

GigaScience ◽  
2021 ◽  
Vol 10 (7) ◽  
Author(s):  
Ruifei Yang ◽  
Xiaoli Guo ◽  
Di Zhu ◽  
Cheng Tan ◽  
Cheng Bian ◽  
...  
Keyword(s):  
Genetic Architecture ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Whole Genome ◽  
Nucleotide Polymorphisms ◽  
Economic Traits ◽  
Single Nucleotide ◽  
Genome Wide ◽  
Sequencing Method ◽  
Low Coverage

Abstract Background Uncovering the genetic architecture of economic traits in pigs is important for agricultural breeding. However, high-density haplotype reference panels are unavailable in most agricultural species, limiting accurate genotype imputation in large populations. Moreover, the infinitesimal model of quantitative traits implies that weak association signals tend to be spread across most of the genome, further complicating the genetic analysis. Hence, there is a need to develop new methods for sequencing large cohorts without large reference panels. Results We describe a Tn5-based highly accurate, cost- and time-efficient, low-coverage sequencing method to obtain 11.3 million whole-genome single-nucleotide polymorphisms in 2,869 Duroc boars at a mean depth of 0.73×. On the basis of these single-nucleotide polymorphisms, a genome-wide association study was performed, resulting in 14 quantitative trait loci (QTLs) for 7 of 21 important agricultural traits in pigs. These QTLs harbour genes, such as ABCD4 for total teat number and HMGA1 for back fat thickness, and provided a starting point for further investigation. The inheritance models of the different traits varied greatly. Most follow the minor-polygene model, but this can be attributed to different reasons, such as the shaping of genetic architecture by artificial selection for this population and sufficiently interconnected minor gene regulatory networks. Conclusions Genome-wide association study results for 21 important agricultural traits identified 14 QTLs/genes and showed their genetic architectures, providing guidance for genetic improvement harnessing genomic features. The Tn5-based low-coverage sequencing method can be applied to large-scale genome studies for any species without a good reference panel and can be used for agricultural breeding.

scholarly journals Genome-wide variations analysis of special waxy sorghum cultivar Hongyingzi for brewing Moutai liquor

2019 ◽  
Author(s):  
Can Wang ◽  
Lingbo Zhou ◽  
Xu Gao ◽  
Yanqing Ding ◽  
Bin Cheng ◽  
...  
Keyword(s):  
Chalcone Synthase ◽  
Reference Genome ◽  
Copy Number Variations ◽  
Whole Genome ◽  
Nucleotide Polymorphisms ◽  
Structural Variations ◽  
Genome Resequencing ◽  
Single Nucleotide ◽  
Genome Wide ◽  
Whole Genome Resequencing

AbstractsHongyingzi is a special waxy sorghum (Sorghum bicolor L. Moench) cultivar for brewing Moutai liquor. For an overall understanding of the whole genome of Hongyingzi, we performed whole-genome resequencing technology with 56.10 X depth to reveal its comprehensive variations. Compared with the BTx623 reference genome, 2.48% of genome sequences were altered in the Hongyingzi genome. Among these alterations, there were 1885774 single nucleotide polymorphisms (SNPs), 309381 small fragments insertions and deletions (Indels), 31966 structural variations (SVs), and 217273 copy number variations (CNVs). These alterations conferred 29614 genes variations. It was also predicted that 35 genes variations were related to the multidrug and toxic efflux (MATE) transporter, chalcone synthase (CHS), ATPase isoform 10 (AHA10) transporter, dihydroflavonol-4-reductase (DFR), the laccase 15 (LAC15), flavonol 3′-hydroxylase (F3′H), flavanone 3-hydroxylase (F3H), O-methyltransferase (OMT), flavonoid 3′5′ hydroxylase (F3′5′H), UDP-glucose:sterol-glucosyltransferase (SGT), flavonol synthase (FLS), and chalcone isomerase (CHI) involved in the tannin synthesis. These results would provide theoretical supports for the molecular markers developments and gene function studies related to the liquor-making traits, and the genetic improvement of waxy sorghum based on the genome editing technology.

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