Resistance to parasites is believed to have a widespread influence on demographic and adaptive processes. In systems where parasites impose a fitness cost on their host, heterozygotes may be selected because they are more resistant to parasites than homozygotes. Our objective was to assess the relationships between genomewide individual heterozygosity and abomasal nematode burdens in female Svalbard reindeer (Rangifer tarandus platyrhynchus) after the effects of host age, locality, season, and year had been accounted for. Samples were obtained from 306 female reindeer that were culled and genotyped at nine microsatellite loci. Reindeer in our study populations are mainly parasitized by the gastrointestinal nematodes Ostertagia gruehneri and Marshallagia marshalli. The infection intensity of each parasite differed between subpopulations, and among host age classes, seasons and years. We found no significant relationships between abomasal worm burdens, or lumen and mucosa larvae, of either O. gruehneri or M. marshalli and individual heterozygosity (or mean d(2)) alone or in interactions with host age, locality, and year. Although we analysed one of the largest data set available to date on gastrointestinal nematodes of a wild ruminant, we used a typical data set of nine genetic neutral markers that may have had low power to detect heterozygosity-fitness correlations. We conclude that the proportion of the variance in parasite resistance explained by individual heterozygosity for neutral genetic markers is low in Svalbard reindeer and in vertebrates in general, and we suggest that the candidate-gene approach might be more fruitful for further research on gene-fitness correlations.
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http://dx.doi.org/10.1111/j.1365-294X.2005.02733.x | DOI Listing |
Mol Genet Genomic Med
January 2025
Center of Reproductive Medicine, Affiliated Children's Hospital of Shanxi & Women Health Center of Shanxi Medicine University, Taiyuan, Shanxi, China.
Introduction: This study investigated the impact of the carrier on transferable blastocyst rate and live birth outcomes in couples with structural chromosomal abnormalities.
Methods: Couples were grouped into reciprocal translocation, Robertsonian translocation, or inversions groups, and clinical data were retrospectively analyzed. Preimplantation genetic testing for chromosomal structural rearrangements (PGT-SR) was conducted, and pregnancy outcomes were compared.
Transplant Cell Ther
December 2024
Fred Hutchinson Cancer Center, Seattle, WA; University of Washington, Seattle, WA. Electronic address:
Background: Despite its known superior diagnostic yield for chromosomal anomalies compared to karyotype and FISH studies, Chromosome Genomic Array Testing (CGAT) is not used as a routine clinical test for myelofibrosis. Meanwhile, although many prognostic systems exist that risk stratify patients at diagnosis, limited tools are available to prognosticate transplant outcome.
Objective: The current study aimed at testing if CGAT results obtained before transplantation improves prognosis of post-transplant outcome in myelofibrosis patients compared with current risk categorization systems namely DIPSS plus.
Cancer Metab
December 2024
Department of Biochemistry and Molecular Biology, Mayo Clinic College of Medicine and Science, 200 First St. SW, Rochester, MN, 55905, USA.
Heterozygosity for loss-of-function alleles of the genes encoding the four subunits of succinate dehydrogenase (SDHA, SDHB, SDHC, SDHD), as well as the SDHAF2 assembly factor predispose affected individuals to pheochromocytoma and paraganglioma (PPGL), two rare neuroendocrine tumors that arise from neural crest-derived paraganglia. Tumorigenesis results from loss of the remaining functional SDHx gene copy, leading to a cell with no functional SDH and a defective tricarboxylic acid (TCA) cycle. It is believed that the subsequent accumulation of succinate competitively inhibits multiple dioxygenase enzymes that normally suppress hypoxic signaling and demethylate histones and DNA, ultimately leading to increased expression of genes involved in angiogenesis and cell proliferation.
View Article and Find Full Text PDFEur J Med Genet
December 2024
Department of Clinical Genetics, Our Lady's Children's Hospital, Children's' Health Ireland, Dublin, Republic of Ireland; Academic Centre on Rare Diseases, University College Dublin, Dublin, Republic of Ireland; National Centre for Inherited Metabolic Disorders, Children's Health Ireland, Temple Street Dublin, Republic of Ireland. Electronic address:
Background: The Roma population are an endogamous, genetically isolated, minority population who migrated from North-Western India to Europe from the 10 Century throughout the Byzantine period and continues to the present day. Approximately 10-12 million Romani people reside in segregated settlements in Europe, and smaller populations live in North America and China. In addition to the endogamy, they also practice consanguinity.
View Article and Find Full Text PDFActa Neuropathol Commun
December 2024
Michigan Center for Translational Pathology, University of Michigan, Ann Arbor, MI, USA.
We identified a rare heterozygous germline loss-of-function variant in the tumor necrosis factor receptor-associated factor 2 (TRAF2) in a young adult patient diagnosed with medulloblastoma. This variant is located within the TRAF-C domain of the E3 ubiquitin ligase protein and is predicted to diminish the binding affinity of TRAF2 to upstream receptors and associated adaptor proteins. Integrative genomics revealed a biallelic loss of TRAF2 via partial copy-neutral loss-of-heterozygosity of 9q in the medulloblastoma genome.
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