A 244K genome-wide array based comparative genomic hybridization study was carried out in a familial translocation t(2;6)(p25;p21) balanced in the mother and unbalanced in her daughter. In the past, this translocation has allowed us to localize the HLA multigene cluster to chromosome 6. With microarray technology, confirmation of the chromosome localization of the HLA system was easily obtained, showing that such approach may be applied to the breakpoint localizations of other familial structural changes when they are unbalanced. The disruption of genes at the translocation breakpoints that did not have any phenotypic consequences in the parent will allow the generation of a map of 'haplotolerant genes'. In addition, many genomic variants were detected with this technology, enlarging the possibility of analyzing their possible contribution to phenotypic diversity.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1159/000112059 | DOI Listing |
Sci China Life Sci
January 2025
College of Animal Science and Technology, Nanjing Agricultural University, Nanjing, 210095, China.
Mitochondrial Rho-GTPase 1 (MIRO1) is an outer mitochondrial membrane protein which regulates mitochondrial transport and mitophagy in mitosis. In present study, we reported the crucial roles of MIRO1 in mammalian oocyte meiosis and its potential relationship with aging. We found that MIRO1 expressed in mouse and porcine oocytes, and its expression decreased in aged mice.
View Article and Find Full Text PDFMol Biol Cell
January 2025
Department of Molecular Genetics, The Ohio State University, Columbus, OH 43210.
The Munc13/UNC-13 family protein Ync13 is essential for septum integrity and cytokinesis in fission yeast. To further explore the mechanism of Ync13 functions, spontaneous suppressors of mutants, which can suppress the colony-formation defects and lysis phenotype of mutant cells, are isolated and characterized. One of the suppressor mutants, -, shows defects in the cytokinetic contractile ring constriction, septation, and daughter-cell separation, similar to mutant.
View Article and Find Full Text PDFJ Agric Food Chem
January 2025
Department of General Surgery, Renmin Hospital of Wuhan University, Wuhan, Hubei 430060, China.
Background Severe acute pancreatitis (SAP) manifests as a critical state marked by acute abdominal symptoms, often associated with intestinal barrier dysfunction, exacerbating SAP retroactively. Ganoderic acid A (GAA) demonstrates anti-inflammatory properties in various inflammatory disorders. Nonetheless, its potential therapeutic impact on SAP and the underlying mechanisms remain unexplored.
View Article and Find Full Text PDFMol Inform
January 2025
Institute of Pharmaceutical and Medicinal Chemistry, University of Münster, Corrensstr. 48, 48149, Muenster, Germany.
Primary carnitine deficiency (PCD) is a rare autosomal recessive genetic disorder caused by missense mutations in the SLC22A5 gene encoding the organic carnitine transporter novel type 2 (OCTN2). This study investigates the structural consequences of PCD-causing mutations, focusing on the N32S variant. Using an alpha-fold model, molecular dynamics simulations reveal altered interactions and dynamics suggesting potential mechanistic changes in carnitine transport.
View Article and Find Full Text PDFMicrobiome
January 2025
Toronto General Hospital, University Health Network, Toronto, Canada.
Background: Metabolic dysfunction-associated steatotic liver disease (MASLD) encompasses a range of histological findings from the generally benign simple steatosis to steatohepatitis (MASH) which can progress to fibrosis and cirrhosis. Several factors, including the microbiome, may contribute to disease progression.
Results: Here, we demonstrate links between the presence and abundance of specific bacteria in the adipose and liver tissues, inflammatory genes, immune cell responses, and disease severity.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!