Recently, other researchers have found that closely related primate species had a lower male-to-female mutation rate ratio (alpha) than distantly related species. To determine if this is a general phenomenon affecting other mammalian orders, eleven species or subspecies of the rodent genus Mus and two outgroup species were compared. Intron sequences from a gene in the nonrecombining region of the Y chromosome Jarid1d (Smcy) and its X chromosomal gametolog, Jarid1c (Smcx), were analyzed in a phylogenetic context. The male-to-female mutation rate ratio for all thirteen taxa is approximately 2.5, which is similar to previous estimates in more distantly related rodents. However, when branches with lengths of more than 2.5% were removed from the analysis, the male-to-female mutation rate ratio dropped to 0.9. Thus, in closely related rodents, as in closely related primates, the male-to-female mutation rate ratio is lower than expected.
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http://dx.doi.org/10.1007/s00239-004-0279-1 | DOI Listing |
Transl Pediatr
November 2024
Department of Endocrinology, Children's Hospital of Nanjing Medical University, Nanjing, China.
Background: The development of the testes is a tightly regulated process, requiring the coordination of multiple genes. Mutations in these genes can result in 46,XY gonadal dysgenesis. , located at Xp21, is a gene expressed in the developing adrenals, gonads, hypothalamus, and pituitary gland.
View Article and Find Full Text PDFZhonghua Gan Zang Bing Za Zhi
November 2024
Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing100050, China National Clinical Research Center for Digestive Diseases, Beijing100050, China.
To analyze the clinical, genetic mutation characteristics, and treatment prognosis of type 2A hereditary hemochromatosis (HH) in China. Peripheral blood samples and clinical data of patients with primary iron overload were collected through the China Registry of Genetic/Metabolic Liver Disease from June 2015 to November 2023. HH-related genes were detected by Sanger sequencing.
View Article and Find Full Text PDFFront Genet
November 2024
Department of Genetics, Metabolism and Endocrinology, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Cureus
September 2024
National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, PAK.
Objective In this study, we sought to elucidate the relationship between demographic and clinical factors and epidermal growth factor receptor tyrosine kinase (EGFR-TK) positivity in patients with advanced-stage lung cancer at a tertiary care center in Pakistan. Methods This analytical cross-sectional study was conducted from February 2020 to July 2023 at Shaikh Zayed Hospital, Lahore, Pakistan, in collaboration with the Centre of Excellence in Molecular Biology (CEMB), University of the Punjab. The study included 70 consecutive patients with advanced-stage lung cancer, and aimed to identify common EGFR mutations (Exon 19 deletion and Exon 21 L858R mutation), determine their frequency, and correlate EGFR-TK mutation positivity with clinical and non-clinical factors.
View Article and Find Full Text PDFPathol Res Pract
November 2024
Department of Pathology and Laboratory Medicine, North Shore University Hospital and Long Island Jewish Medical Center, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell Health, United States.
Introduction: Solid pseudopapillary neoplasm (SPN) is a tumor of young females with gain-of-function mutation in catenin beta 1 gene involved in Wnt signal transduction pathway. Beta-catenin immunohistochemistry (IHC) is used to diagnose SPN. Lymphoid enhancer-binding factor 1 (LEF-1) has been recognized in the transactivation of Wnt pathway.
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