In this paper, we extend our previous analyses of a set of genes in Caenorhabditis elegans that are involved in muscle structure and function: unc-93 III, sup-9 II, sup-10 X and sup-11 I. We describe an unusual, visible allele of sup-10, examine how this allele interacts genetically with mutations in other genes of this set and propose that the wild-type products of the unc-93 and sup-10 loci may be components of a protein complex. We also describe a new gene of this set, sup-18 III, and the interaction of sup-18 alleles with mutations in the other genes.
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http://dx.doi.org/10.1093/genetics/113.1.63 | DOI Listing |
medRxiv
November 2024
Department of Ophthalmology, Columbia University Irving Medical Center, New York, NY, USA.
Talanta
January 2025
Department of Experiment Center, School of Medical Technology, Beihua University, No. 3999 Binjiang East Road, Fengman District, Jilin City, Jilin Province, China. Electronic address:
Aspirin (ASP) is currently the drug of choice for antiplatelet therapy. However, approximately 5%-45 % of patients are resistant to ASP and do not achieve the expected result. At present, a few studies have investigated the correlation between ASP resistance (AR) and single-nucleotide polymorphism (SNP).
View Article and Find Full Text PDFUnlabelled: Modifiers of Huntington's disease (HD) include mismatch repair (MMR) genes; however, their underlying disease-altering mechanisms remain unresolved. Knockout (KO) alleles for 9 HD GWAS modifiers/MMR genes were crossed to the Q140 Huntingtin (mHtt) knock-in mice to probe such mechanisms. Four KO mice strongly ( and ) or moderately ( and ) rescue a triad of adult-onset, striatal medium-spiny-neuron (MSN)-selective phenotypes: somatic DNA CAG-repeat expansion, transcriptionopathy, and mHtt protein aggregation.
View Article and Find Full Text PDFInt J Mol Sci
June 2024
Department Biological, Geological and Environmental Sciences, University of Catania, Via Androne 81, 95124 Catania, Italy.
The most significant genetic influence on eye color pigmentation is attributed to the intronic SNP rs12913832 in the gene, which interacts with the promoter region of the contiguous gene. This interaction, through the formation of a chromatin loop, modulates the transcriptional activity of , directly affecting eye color pigmentation. Recent advancements in technology have elucidated the precise spatial organization of the genome within the cell nucleus, with chromatin architecture playing a pivotal role in regulating various genome functions.
View Article and Find Full Text PDFAnim Genet
August 2024
GenPhySE, Université de Toulouse, INRAE, ENVT, Castanet-Tolosan, France.
We recently discovered that the Manech Tête Rousse (MTR) deficient homozygous haplotype 2 (MTRDHH2) probably carries a recessive lethal mutation in sheep. In this study, we fine-mapped this region through whole-genome sequencing of five MTRDHH2 heterozygous carriers and 95 non-carriers from various ovine breeds. We identified a single base pair duplication within the SLC33A1 gene, leading to a frameshift mutation and a premature stop codon (p.
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