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Gene pseudogenization in fertility-associated genes in cheetah (Acinonyx jubatus), a species with long-term low effective population size.
Evolution
January 2025
Earlham Institute, Norwich Research Park, Norwich, United Kingdom.
We are witnessing an ongoing global biodiversity crisis, and an increasing number of mammalian populations are at risk of decline. Species that have survived severe historic bottlenecks, such as the cheetah (Acinonyx jubatus) exhibit symptoms of inbreeding depression including reproductive and developmental defects. Although it has long been suggested that such defects stem from an accumulation of weakly deleterious mutations, the implications of such mutations leading to pseudogenization has not been assessed.
View Article and Find Full Text PDFFrequency and Impact of Constitutional Mismatch Repair Deficiency in Patients With High-Grade Glioma, a Retrospective Analysis of 7 Years in Pakistan: an IRRDC Study.
JCO Glob Oncol
January 2025
Department of Oncology, Aga Khan University Hospital, Karachi, Pakistan.
Purpose: Constitutional mismatch repair deficiency (CMMRD) is a genetic cancer predisposition syndrome among children and young adults. This study aimed to evaluate the frequency of CMMRD among patients with pediatric high-grade glioma (pHGG) in a single tertiary care center in Pakistan, a country with high consanguinity rates.
Patients And Methods: We reviewed the data of patients age <18 years with pHGG, anaplastic astrocytoma, and diffuse midline glioma (DMG) with CMMRD testing between 2016 and 2023.
Genomic variation responding to artificial selection on different lines of Pekin duck.
Poult Sci
January 2025
Department of Animal Genetics and Breeding, National Engineering Laboratory for Animal Breeding, College of Animal Science and Technology, China Agricultural University, Yuanmingyuan West Road 2#, Beijing 100193, China. Electronic address:
Understanding the genomic variation in Pekin duck under artificial selection is important for improving the utilization of duck genetic resources. Here, the genomic changes in Pekin duck were analyzed by using the genome resequencing data from 96 individual samples, including 2 conservation populations and 4 breeding populations with different breeding backgrounds. The population structure, runs of homozygosity (ROH), effective population number (Ne), and other genetic parameters were analyzed.
View Article and Find Full Text PDF[Construction of black-bone silky fowl (Gallus gallus domesticus) families based on genetic diversity].
Zhongguo Zhong Yao Za Zhi
December 2024
State Key Laboratory for Quality Ensurance and Sustainable Use of Dao-di Herbs, National Resource Center for Chinese Materia Medica, China Academy of Chinese Medical Sciences Beijing 100700, China.
Black-bone silky fowls(Gallus gallus domesticus) have a long history of medicinal use, with the origin in Taihe county, Jiangxi province. The unclear family composition, inbreeding rate, and effective population size were inconducive to the resource conservation or breed improvement of black-bone silky fowls. A genome-wide analysis was performed to evaluate the genetic diversity of 80 black-bone silky fowls from random mating in three farms in 2021 in terms of minor allele frequency(MAF), expected heterozygosity(H_e), observed heterozygosity(H_o), effective population size(N_e), and runs of homozygosity(ROH).
View Article and Find Full Text PDFAssociation of Novel Pathogenic Variant (p. Ile366Asn) in Gene with Infantile Neuroaxonal Dystrophy.
Int J Mol Sci
January 2025
Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA.
A couple presented to the office with an apparently healthy infant for a thorough clinical assessment, as they had previously lost two male children to a neurodegenerative disorder. They also reported the death of a male cousin abroad with a comparable condition. We aimed to evaluate a novel coding pathogenic variant c.
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