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http://dx.doi.org/10.1093/oxfordjournals.jhered.a108794 | DOI Listing |
Int J Womens Health
April 2024
Department of Obstetrics and Gynecology; Universitas Padjadjaran, Bandung, Indonesia.
Introduction: Correlation of Turner syndrome (TS) with germ cell malignancy is acknowledge in TS patient with Y chromosome material but not otherwise. This case report wishes to highlight yolk sac tumor occurrence in patients with TS 46XX karyotype mosaicism.
Case Report: A 23-year-old nulligravid woman was admitted with abdominal mass and vaginal bleeding.
Bioessays
December 2023
San Francisco State University, San Francisco, California, USA.
The creeping vole Microtus oregoni exhibits remarkably transformed sex chromosome biology, with complete chromosome drive/drag, X-Y fusions, sex reversed X complements, biased X inactivation, and X chromosome degradation. Beginning with a selfish X chromosome, I propose a series of adaptations leading to this system, each compensating for deleterious consequences of the preceding adaptation: (1) YY embryonic inviability favored evolution of a selfish feminizing X chromosome; (2) the consequent Y chromosome transmission disadvantage favored X-Y fusion ("X "); (3) Xist-based silencing of Y-derived X genes favored a second X-Y fusion ("X "); (4) X chromosome dosage-related costs in X X males favored the evolution of X loss during spermatogenesis; (5) X chromosomal dosage-related costs in X 0 females favored the evolution of X drive during oogenesis; and (6) degradation of the non-recombining X favored the evolution of biased X chromosome inactivation. I discuss recurrent rodent sex chromosome transformation, and selfish genes as a constructive force in evolution.
View Article and Find Full Text PDFBackground: We have previously described genetic polymorphisms in candidate genes that are associated with inter-individual variations in antibody responses to mumps vaccination. To expand upon our previous work, we performed a genome-wide association study (GWAS) to discover host genetic variants associated with mumps vaccine-induced cellular immune responses.
Methods: We performed a GWAS of mumps-specific immune response outcomes (11 secreted cytokines/chemokines) in a cohort of 1,406 subjects.
Omega-3 (n-3) and omega-6 (n-6) polyunsaturated fatty acids (PUFAs) play critical roles in human health. Prior genome-wide association studies (GWAS) of n-3 and n-6 PUFAs in European Americans from the CHARGE Consortium have documented strong genetic signals in/near the locus on chromosome 11. We performed a GWAS of four n-3 and four n-6 PUFAs in Hispanic American (n = 1454) and African American (n = 2278) participants from three CHARGE cohorts.
View Article and Find Full Text PDFBiol Reprod
December 2021
Department of Veterinary Physiology and Pharmacology, Texas A&M University, College Station, TX 77843, USA.
Embryonic genome activation and dosage compensation are major genetic events in early development. Combined analysis of single embryo RNA-seq data and parental genome sequencing was used to evaluate parental contributions to early development and investigate X-chromosome dynamics. In addition, we evaluated dimorphism in gene expression between male and female embryos.
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