Loss of Heterozygosity in Chromosome-1, Chromosome-5, Chromosome-7 and Chromosome-13 in Mouse Hepatoma Detected by Systematic Genome-Wide Scanning Using Rlgs Genetic-Map

1995 ◽  
Vol 212 (2) ◽  
pp. 632-639 ◽  
Author(s):  
T. Ohsumi ◽  
Y. Okazaki ◽  
H. Okuizumi ◽  
K. Shibata ◽  
T. Hanami ◽  
...  
Keyword(s):  
Loss Of Heterozygosity ◽  
Genetic Map ◽  
Chromosome 7 ◽  
Chromosome 1 ◽  
Chromosome 5 ◽  
Chromosome 13 ◽  
Mouse Hepatoma ◽  
Genome Wide

scholarly journals Methylome-wide analysis reveals epigenetic marks associated with resistance to tuberculosis in HIV-infected individuals from East Africa

2020 ◽  
Author(s):  
Catherine Stein ◽  
Penelope Bencheck ◽  
Jacquelaine Bartlett ◽  
Robert P Igo ◽  
Rafal S Sobota ◽  
...  
Keyword(s):  
Genome Wide Association Study ◽  
Sub Saharan Africa ◽  
Chromosome 1 ◽  
Chromosome 2 ◽  
Chromosome 5 ◽  
Epigenetic Marks ◽  
Genome Wide ◽  
A Genome ◽  
Immunodeficiency Virus ◽  
Sub Saharan

Background: Tuberculosis (TB) is the most deadly infectious disease globally and highly prevalent in the developing world, especially sub-Saharan Africa. Even though a third of humans are exposed to Myocbacterium tuberculosis (Mtb), most infected immunocompetent individuals do not develop active TB. In contrast, for individuals infected with both TB and the human immunodeficiency virus (HIV), the risk of active disease is 10% or more per year. Previously, we identified in a genome-wide association study a region on chromosome 5 that was associated with resistance to TB. This region included epigenetic marks that could influence gene regulation so we hypothesized that HIV-infected individuals exposed to Mtb, who remain disease free, carry epigenetic changes that strongly protect them from active TB. To test this hypothesis, we conducted a methylome-wide study in HIV-infected, TB-exposed cohorts from Uganda and Tanzania. Results: In 221 HIV-infected adults from Uganda and Tanzania, we identified 3 regions of interest that included markers that were differentially methylated between TB cases and LTBI controls, that also included methylation QTLs and associated SNPs: chromosome 1 (RNF220, p=4x10-5), chromosome 2 (between COPS8 and COL6A3 genes, p=2.7x10-5), and chromosome 5 (CEP72, p=1.3x10-5). These methylation results colocalized with associated SNPs, methylation QTLs, and methylation x SNP interaction effects. These markers were in regions with regulatory markers for cells involved in TB immunity and/or lung. Conclusion: Epigenetic regulation is a potential biologic factor underlying resistance to TB in immunocompromised individuals that can act in conjunction with genetic variants.

Detection of quantitative trait loci for locomotion and osteochondrosis-related traits in Large White ✕ Meishan pigs

2003 ◽  
Vol 76 (2) ◽  
pp. 155-165 ◽  
Author(s):  
G.J. Lee ◽  
A.L. Archibald ◽  
G.B. Garth ◽  
A.S. Law ◽  
D. Nicholson ◽  
...  
Keyword(s):  
Quantitative Trait Loci ◽  
Quantitative Trait ◽  
Chromosome 1 ◽  
Chromosome 15 ◽  
Large White ◽  
Chromosome 13 ◽  
Genome Wide ◽  
A Genome ◽  
Trait Loci ◽  
Gait Score

AbstractData from the F2 generation of a Large White (LW) ✕ Meishan (MS) crossbred population were analysed to detect quantitative trait loci (QTL) for leg and gait scores, osteochondrosis and physis scores. Legs, feet and gait score were assessed in 308 F2 animals at 85 ( + 5) kg and osteochondrosis and physis scores were recorded for the right foreleg after slaughter. A genome scan was performed using 111 genetic markers chosen to span the genome that were genotyped on the F2 animals and their F1 parents and purebred grandparents. A QTL on chromosome 1 affecting gait score was significant at the genome-wide significance level. Additional QTL significant at the chromosome-wide 5% threshold level (approx. equivalent to the genome-wide suggestive level) were detected on chromosome 1 for front feet and back legs scores, on chromosome 13 for front legs and front feet scores, on chromosome 14 for front legs, front feet and back legs scores and on chromosome 15 for back feet score. None of the QTL for osteochondrosis score exceeded the chromosome-wide suggestive level, but one chromosome-wide QTL for physis score was found on chromosome 7. On chromosome 1, gait and front feet scores mapped to the middle of the chromosome and showed additive effects in favour of the LW alleles and no dominance effects. The QTL for back legs score mapped to the distal end of the chromosome and showed a dominant effect and no additive effect. On chromosomes 14 and 15, the LW allele was again superior to the MS allele. On chromosome 13, there were both additive and dominance effects in favour of the MS allele. The MS alleles on chromosome 13 may have potential for introgression into a commercial LW population. The other putative QTLs identified may have value in marker-assisted selection in LW or MS-synthetic populations.

scholarly journals Genetic Analysis of the Hypothalamic Corticotropin-Releasing Factor System

Endocrinology ◽  
2005 ◽  
Vol 146 (5) ◽  
pp. 2362-2368 ◽  
Author(s):  
Steven J. Garlow ◽  
Ericka Boone ◽  
Wei Li ◽  
Michael J. Owens ◽  
Charles B. Nemeroff
Keyword(s):  
Binding Protein ◽  
Transcript Abundance ◽  
Interval Mapping ◽  
Chromosome 8 ◽  
Chromosome 7 ◽  
Chromosome 1 ◽  
Chromosome 12 ◽  
Potential Candidate ◽  
Chromosome 13 ◽  
Crf System

Abstract The goal of this study was to use BxD recombinant inbred mice to search for genes that control the hypothalamic corticotrophin-releasing factor (CRF) system. The specific phenotype that was measured was abundance of transcripts that encode CRF, CRF receptor (Crf-R1), CRF binding protein, and arginine vasopressin (AVP) in total hypothalamic RNA. The strain distribution patterns for the transcript abundances for each target were continuously distributed, consistent with these being quantitative traits. Marker regression and interval mapping revealed associations with quantitative trait loci (QTL) for CRF transcript abundance on chromosome 1 (at 89.2 cM), chromosome 12 (between 54–58 cM), and chromosome 13 (between 26–30 cM); for Crf-R1 transcript abundance on chromosome 7 (at 1.5 cM), chromosome 12 (at 37 cM), and chromosome X (at 30 cM); for CRF binding protein transcript abundance on chromosome 7 (at 48.5 cM), chromosome 8 (at 65 cM), and chromosome 12 (at 19 cM); and for AVP transcript abundance on chromosome 7 (at 1 cM), chromosome 12 (at 13 cM), and chromosome 13 (at 45 cM). The transcript abundance QTL were not linked to their respective structural genes. Interval mapping on chromosome 7 reveals substantial overlap between QTL that control AVP and Crf-R1 transcript abundance and on chromosome 12 for QTL that control CRF and Crf-R1, which may indicate loci that coordinate regulation of the CRF system. There are QTL for all four targets on chromosome 12. There are a number of neurodevelopmental genes in very close proximity to the transcript abundance QTL that are potential candidate genes.

scholarly journals Methylome-wide analysis reveals epigenetic marks associated with resistance to tuberculosis in HIV-infected individuals from East Africa

2021 ◽  
Author(s):  
Catherine M Stein ◽  
Penelope Benchek ◽  
Jacquelaine Bartlett ◽  
Robert P Igo ◽  
Rafal S Sobota ◽  
...  
Keyword(s):  
Genome Wide Association Study ◽  
Chromosome 1 ◽  
Chromosome 2 ◽  
Chromosome 5 ◽  
Epigenetic Marks ◽  
Genome Wide ◽  
A Genome ◽  
Immunodeficiency Virus ◽  
Disease Free ◽  
Snp Interaction

Abstract Background Tuberculosis (TB) is the most deadly infectious disease globally and highly prevalent in the developing world. For individuals infected with both Mycobacterium tuberculosis (Mtb) and human immunodeficiency virus (HIV), the risk of active TB is 10% or more annually. Previously, we identified in a genome-wide association study (GWAS) a region on chromosome 5 associated with resistance to TB, which included epigenetic marks that could influence gene regulation. We hypothesized that HIV-infected individuals exposed to Mtb, who remain disease free, carry epigenetic changes that strongly protect them from active TB. Methods We conducted a methylome-wide study in HIV-infected, TB-exposed cohorts from Uganda and Tanzania and integrated data from our GWAS. Results We identified 3 regions of interest that included markers that were differentially methylated between TB cases and LTBI controls: chromosome 1 (RNF220, p=4x10 -5), chromosome 2 (between COPS8 and COL6A3, p=2.7x10 -5), and chromosome 5 (CEP72, p=1.3x10 -5). These methylation results co-localized with associated SNPs, methylation QTLs, and methylation x SNP interaction effects. These markers were in regions with regulatory markers for cells involved in TB immunity and/or lung. Conclusion Epigenetic regulation is a potential biologic factor underlying resistance to TB in immunocompromised individuals that can act in conjunction with genetic variants.

scholarly journals Development and validation of genome-wide InDel markers with high levels of polymorphism in bitter gourd (Momordica charantia)

BMC Genomics ◽  
2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Junjie Cui ◽  
Jiazhu Peng ◽  
Jiaowen Cheng ◽  
Kailin Hu
Keyword(s):  
Genetic Map ◽  
Average Density ◽  
Momordica Charantia ◽  
Bitter Gourd ◽  
Map Construction ◽  
Indel Markers ◽  
Genome Wide ◽  
Indel Polymorphisms ◽  
Molecular Marker Development ◽  
Development And Validation

Abstract Background The preferred choice for molecular marker development is identifying existing variation in populations through DNA sequencing. With the genome resources currently available for bitter gourd (Momordica charantia), it is now possible to detect genome-wide insertion-deletion (InDel) polymorphisms among bitter gourd populations, which guides the efficient development of InDel markers. Results Here, using bioinformatics technology, we detected 389,487 InDels from 61 Chinese bitter gourd accessions with an average density of approximately 1298 InDels/Mb. Then we developed a total of 2502 unique InDel primer pairs with a polymorphism information content (PIC) ≥0.6 distributed across the whole genome. Amplification of InDels in two bitter gourd lines ‘47–2–1-1-3’ and ‘04–17,’ indicated that the InDel markers were reliable and accurate. To highlight their utilization, the InDel markers were employed to construct a genetic map using 113 ‘47–2–1-1-3’ × ‘04–17’ F2 individuals. This InDel genetic map of bitter gourd consisted of 164 new InDel markers distributed on 15 linkage groups with a coverage of approximately half of the genome. Conclusions This is the first report on the development of genome-wide InDel markers for bitter gourd. The validation of the amplification and genetic map construction suggests that these unique InDel markers may enhance the efficiency of genetic studies and marker-assisted selection for bitter gourd.

scholarly journals E-MAGMA: an eQTL-informed method to identify risk genes using genome-wide association study summary statistics

2021 ◽  
Author(s):  
Zachary F Gerring ◽  
Angela Mina-Vargas ◽  
Eric R Gamazon ◽  
Eske M Derks
Keyword(s):  
Genome Wide Association ◽  
Chromosome 1 ◽  
Supplementary Information ◽  
Genome Wide Association Studies ◽  
Summary Statistics ◽  
Tissue Specific ◽  
Complex Disorders ◽  
Risk Variants ◽  
Genome Wide ◽  
Causal Genes

Abstract Motivation Genome-wide association studies have successfully identified multiple independent genetic loci that harbour variants associated with human traits and diseases, but the exact causal genes are largely unknown. Common genetic risk variants are enriched in non-protein-coding regions of the genome and often affect gene expression (expression quantitative trait loci, eQTL) in a tissue-specific manner. To address this challenge, we developed a methodological framework, E-MAGMA, which converts genome-wide association summary statistics into gene-level statistics by assigning risk variants to their putative genes based on tissue-specific eQTL information. Results We compared E-MAGMA to three eQTL informed gene-based approaches using simulated phenotype data. Phenotypes were simulated based on eQTL reference data using GCTA for all genes with at least one eQTL at chromosome 1. We performed 10 simulations per gene. The eQTL-h2 (i.e., the proportion of variation explained by the eQTLs) was set at 1%, 2%, and 5%. We found E-MAGMA outperforms other gene-based approaches across a range of simulated parameters (e.g. the number of identified causal genes). When applied to genome-wide association summary statistics for five neuropsychiatric disorders, E-MAGMA identified more putative candidate causal genes compared to other eQTL-based approaches. By integrating tissue-specific eQTL information, these results show E-MAGMA will help to identify novel candidate causal genes from genome-wide association summary statistics and thereby improve the understanding of the biological basis of complex disorders. Availability A tutorial and input files are made available in a github repository: https://github.com/eskederks/eMAGMA-tutorial. Supplementary information Supplementary data are available at Bioinformatics online.

Genetic map of rat Chromosome 5 including the fatty (fa) locus

1995 ◽  
Vol 6 (1) ◽  
pp. 25-30 ◽  
Author(s):  
G. E. Truett ◽  
H. J. Jacob ◽  
J. Miller ◽  
G. Drouin ◽  
N. Bahary ◽  
...  
Keyword(s):  
Genetic Map ◽  
Chromosome 5

scholarly journals Loss of Heterozygosity of the Long Arm of Chromosome 7 in Follicular and Anaplastic Thyroid Cancer, but Not in Papillary Thyroid Cancer1

1999 ◽  
Vol 84 (9) ◽  
pp. 3235-3240 ◽  
Author(s):  
Maria Trovato ◽  
Filippo Fraggetta ◽  
Daniela Villari ◽  
Dario Batolo ◽  
Karol Mackey ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Loss Of Heterozygosity ◽  
Anaplastic Thyroid Cancer ◽  
Chromosome 7 ◽  
Papillary Thyroid
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