A Genome Segment on Mouse Chromosome 12 Determines Maxillary Growth

2007 ◽  
Vol 86 (12) ◽  
pp. 1203-1206 ◽  
Author(s):  
J. Oh ◽  
C.J. Wang ◽  
M. Poole ◽  
E. Kim ◽  
R.C. Davis ◽  
...  
Keyword(s):  
Mouse Chromosome ◽  
Chromosome 12 ◽  
Mouse Strains ◽  
Snout Length ◽  
Face Width ◽  
Maxillofacial Development ◽  
A Genome ◽  
Imaging Results ◽  
Trait Locus ◽  
Anterior Posterior

The primary and modifier genes that regulate normal maxillofacial development are unknown. Previous quantitative trait locus (QTL) analyses using the F2 progeny of 2 mouse strains, DBA/2J (short snout/wide face) and C57BL/6J (long snout/narrow face), revealed a significant logarithm-of-odds (LOD) score for snout length on mouse chromosome 12 at 44 centimorgan (cM). We further sought to validate this locus contributing to anterior-posterior dimensions of the upper mid-face at the D12Mit7 marker in a 44-centimorgan portion of chromosome 12. Congenic mice carrying introgressed DNA from DBA/2J on a C57BL/6J background were selected for submental vertex cephalometric imaging. Results confirmed QTLs, determining that short snout length (P < 0.05) and face width relative to snout length (P < 0.01) were present in the 44-cM region of chromosome 12. We conclude that one or more genes contributing to the shape of the maxillary complex are located near 44 cM of mouse chromosome 12.

Selected Contribution: Variation in acute hypoxic ventilatory response is linked to mouse chromosome 9

2001 ◽  
Vol 90 (4) ◽  
pp. 1615-1622 ◽  
Author(s):  
Clarke G. Tankersley
Keyword(s):  
Mouse Chromosome ◽  
Genetic Model ◽  
Ventilatory Response ◽  
Minute Ventilation ◽  
Inbred Mouse ◽  
Chromosome 9 ◽  
Mouse Strains ◽  
Hypoxic Ventilatory Response ◽  
A Genome ◽  
Trait Locus

Genetic determinants confer variation among inbred mouse strains with respect to the magnitude and pattern of breathing during acute hypoxic challenge. Specifically, inheritance patterns derived from C3H/HeJ (C3) and C57BL/6J (B6) parental strains suggest that differences in hypoxic ventilatory response (HVR) are controlled by as few as two genes. The present study demonstrates that at least one genetic determinant is located on mouse chromosome 9. This genotype-phenotype association was established by phenotyping 52 B6C3F2 (F2) offspring for HVR characteristics. A genome-wide screen was performed using microsatellite DNA markers ( n = 176) polymorphic between C3 and B6 mice. By computing log-likelihood values (LOD scores), linkage analysis compared marker genotypes with minute ventilation (V˙e), tidal volume (Vt), and mean inspiratory flow (Vt/Ti, where Ti is inspiratory time) during acute hypoxic challenge (inspired O2 fraction = 0.10, inspired CO2fraction = 0.03 in N2). A putative quantitative trait locus (QTL) positioned in the vicinity of D9Mit207 was significantly associated with hypoxic V˙e (LOD = 4.5), Vt (LOD = 4.0), and Vt/Ti (LOD = 5.1). For each of the three HVR characteristics, the putative QTL explained more than 30% of the phenotypic variation among F2 offspring. In conclusion, this genetic model of differential HVR characteristics demonstrates that a locus ∼33 centimorgans from the centromere on mouse chromosome 9 confers a substantial proportion of the variance inV˙e, Vt, and Vt/Tiduring acute hypoxic challenge.

scholarly journals A genetic map of mouse chromosome 12 composed of polymorphic DNA fragments.

1984 ◽  
Vol 160 (3) ◽  
pp. 827-838 ◽  
Author(s):  
P D'Eustachio
Keyword(s):  
Somatic Cell ◽  
Mouse Chromosome ◽  
Genetic Map ◽  
Cell Hybrid ◽  
Somatic Cell Hybrid ◽  
Inbred Mouse ◽  
Chinese Hamster ◽  
Chromosome 12 ◽  
Mouse Strains ◽  
Dna Fragments

Mouse chromosome 12 encodes the heavy chains of immunoglobulins (Igh), a family of T cell surface molecules, and a tumor antigen that may be homologous to immunoglobulins. To refine and extend the genetic map of this chromosome, a procedure has been developed to isolate chromosome 12-specific DNA fragments from a somatic cell hybrid carrying the chromosome on a Chinese hamster background. Five fragments have been isolated and characterized in detail. All are polymorphic, defining loci D12-1, 2, 3, 4, and 5. Using recombinant inbred mouse strains, a tentative linkage map of chromosome 12 has been worked out that incorporates these markers, the c-fos oncogene, Igh, and Pre-1/alpha 1 antitrypsin. This strategy should be applicable to any mouse chromosome or chromosomal region that can be isolated in a somatic cell hybrid.

scholarly journals A Genome-Wide Linkage Scan for Age at Menarche in Three Populations of European Descent

2008 ◽  
Vol 93 (10) ◽  
pp. 3965-3970 ◽  
Author(s):  
Carl A. Anderson ◽  
Gu Zhu ◽  
Mario Falchi ◽  
Stéphanie M. van den Berg ◽  
Susan A. Treloar ◽  
...  
Keyword(s):  
Pubertal Development ◽  
Large Population ◽  
Population Based ◽  
Chromosome 12 ◽  
Age At Menarche ◽  
Genome Wide ◽  
Three Samples ◽  
A Genome ◽  
Trait Locus ◽  
Clinically Significant

Context: Age at menarche (AAM) is an important trait both biologically and socially, a clearly defined event in female pubertal development, and has been associated with many clinically significant phenotypes. Objective: The objective of the study was to identify genetic loci influencing variation in AAM in large population-based samples from three countries. Design/Participants: Recalled AAM data were collected from 13,697 individuals and 4,899 pseudoindependent sister-pairs from three different populations (Australia, The Netherlands, and the United Kingdom) by mailed questionnaire or interview. Genome-wide variance components linkage analysis was implemented on each sample individually and in combination. Results: The mean, sd, and heritability of AAM across the three samples was 13.1 yr, 1.5 yr, and 0.69, respectively. No loci were detected that reached genome-wide significance in the combined analysis, but a suggestive locus was detected on chromosome 12 (logarithm of the odds = 2.0). Three loci of suggestive significance were seen in the U.K. sample on chromosomes 1, 4, and 18 (logarithm of the odds = 2.4, 2.2 and 3.2, respectively). Conclusions: There was no evidence for common highly penetrant variants influencing AAM. Linkage and association suggest that one trait locus for AAM is located on chromosome 12, but further studies are required to replicate these results.

scholarly journals Epigenome-Wide Study Identified Methylation Sites Associated with the Risk of Obesity

Nutrients ◽  
2021 ◽  
Vol 13 (6) ◽  
pp. 1984
Author(s):  
Majid Nikpay ◽  
Sepehr Ravati ◽  
Robert Dent ◽  
Ruth McPherson
Keyword(s):  
Quantitative Trait Locus ◽  
Quantitative Trait ◽  
Rare Variants ◽  
Genome Wide ◽  
A Genome ◽  
Genome Wide Search ◽  
Risk Snps ◽  
Trait Locus ◽  
Genomic Regions ◽  
Eqtl Data

Here, we performed a genome-wide search for methylation sites that contribute to the risk of obesity. We integrated methylation quantitative trait locus (mQTL) data with BMI GWAS information through a SNP-based multiomics approach to identify genomic regions where mQTLs for a methylation site co-localize with obesity risk SNPs. We then tested whether the identified site contributed to BMI through Mendelian randomization. We identified multiple methylation sites causally contributing to the risk of obesity. We validated these findings through a replication stage. By integrating expression quantitative trait locus (eQTL) data, we noted that lower methylation at cg21178254 site upstream of CCNL1 contributes to obesity by increasing the expression of this gene. Higher methylation at cg02814054 increases the risk of obesity by lowering the expression of MAST3, whereas lower methylation at cg06028605 contributes to obesity by decreasing the expression of SLC5A11. Finally, we noted that rare variants within 2p23.3 impact obesity by making the cg01884057 site more susceptible to methylation, which consequently lowers the expression of POMC, ADCY3 and DNAJC27. In this study, we identify methylation sites associated with the risk of obesity and reveal the mechanism whereby a number of these sites exert their effects. This study provides a framework to perform an omics-wide association study for a phenotype and to understand the mechanism whereby a rare variant causes a disease.

scholarly journals Genetic variation in recombination rate in the pig

2021 ◽  
Vol 53 (1) ◽  
Author(s):  
Martin Johnsson ◽  
Andrew Whalen ◽  
Roger Ros-Freixedes ◽  
Gregor Gorjanc ◽  
Ching-Yi Chen ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Recombination Rate ◽  
Large Scale ◽  
Genome Wide Association Study ◽  
Genetic Material ◽  
A Genome ◽  
Pig Genome ◽  
Genetic Length ◽  
Trait Locus ◽  
Genomic Regions

Abstract Background Meiotic recombination results in the exchange of genetic material between homologous chromosomes. Recombination rate varies between different parts of the genome, between individuals, and is influenced by genetics. In this paper, we assessed the genetic variation in recombination rate along the genome and between individuals in the pig using multilocus iterative peeling on 150,000 individuals across nine genotyped pedigrees. We used these data to estimate the heritability of recombination and perform a genome-wide association study of recombination in the pig. Results Our results confirmed known features of the recombination landscape of the pig genome, including differences in genetic length of chromosomes and marked sex differences. The recombination landscape was repeatable between lines, but at the same time, there were differences in average autosome-wide recombination rate between lines. The heritability of autosome-wide recombination rate was low but not zero (on average 0.07 for females and 0.05 for males). We found six genomic regions that are associated with recombination rate, among which five harbour known candidate genes involved in recombination: RNF212, SHOC1, SYCP2, MSH4 and HFM1. Conclusions Our results on the variation in recombination rate in the pig genome agree with those reported for other vertebrates, with a low but nonzero heritability, and the identification of a major quantitative trait locus for recombination rate that is homologous to that detected in several other species. This work also highlights the utility of using large-scale livestock data to understand biological processes.

Mouse Chromosome 12

1992 ◽  
Vol 3 (S1) ◽  
pp. S182-S194 ◽  
Author(s):  
Peter D'Eustachio
Keyword(s):  
Mouse Chromosome ◽  
Chromosome 12

Hemorrhagic hydrocephalus (hhy): a novel mutation on mouse chromosome 12

2004 ◽  
Vol 152 (1) ◽  
pp. 69-72 ◽  
Author(s):  
Mitsuru Kuwamura ◽  
Asako Kinoshita ◽  
Masaaki Okumoto ◽  
Jyoji Yamate ◽  
Nobuko Mori
Keyword(s):  
Mouse Chromosome ◽  
Novel Mutation ◽  
Chromosome 12
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