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Cytogenomic analysis in Seriemas (Cariamidae): Insights into an Atypical Avian Karyotype.
J Hered
March 2025
Departamento de Genética e Evolução, Universidade Federal de São Carlos, 13565-905 São Carlos, SP, Brazil.
Contrasting with most bird species that present an ancestral-like karyotype (with 2n = 80), the only extant Cariamidae birds, the Red-legged (Cariama cristata) and Black-legged (Chunga burmeisteri) Seriemas, have high 2n and atypically large Z chromosomes. This study combined cytogenetic, bioinformatic, and genomic analyses to examine the distinctive characteristics of an unusual bird karyotype, with a focus on repetitive elements and sex chromosomes. Whole-genome alignments and chromosomal painting with a Z-chromosome-specific probe were also performed against the emu (a species with an ancestral-like karyotype).
View Article and Find Full Text PDFLoss of N-6 adenine-specific DNA methyltransferase 1 leads to meiotic prophase abnormalities and male sub-fertility in mice.
Biol Reprod
March 2025
The Institute of Cardiovascular Sciences, School of Basic Medical Sciences; Key Laboratory of Environment and Genes Related to Diseases, Ministry of Education, Xi'an Jiaotong University, Xi'an, Shaanxi, China.
Mammalian sexual reproduction critically relies on the generation of haploid gametes following a specialized cell division process known as meiosis. Here, we demonstrate that N-6 Adenine-Specific DNA methyltransferase 1 (N6AMT1) plays a crucial role in the progression of meiosis during spermatogenesis, as follows. N6AMT1 was expressed in germ cells throughout the entire process of spermatogenesis, with a peak in mRNA levels in spermatocytes at the prophase I stage of meiosis.
View Article and Find Full Text PDFThe genome sequence of the Dotted Footman moth, (Hufnagel, 1767).
Wellcome Open Res
February 2025
Natural History Museum, London, England, UK.
We present a genome assembly from a male (Dotted Footman; Arthropoda; Insecta; Lepidoptera; Erebidae). The genome sequence has a total length of 500.49 megabases.
View Article and Find Full Text PDFStatus and frontiers of Fabre disease.
Orphanet J Rare Dis
March 2025
Center for Clinical Pharmacy, Cancer Center, Department of Pharmacy, Zhejiang Provincial People's Hospital (Affiliated People's Hospital, Hangzhou Medical College), Hangzhou, China.
Fabry disease is characterized by an X sex chromosome gene mutation caused by α-galactosidase A deficiency, resulting in the accumulation of globotriaosylceramide and globotriaosylsphingosine in various organs, which induces end-organ lesions. In Fabry disease, enzymes with lost or decreased activity in the body are replaced by exogenous supplementation of normal-function α-galactosidase A. Currently, agalsidase α and agalsidase β are widely used for ERT therapy.
View Article and Find Full Text PDFThe role of unbalanced segmental duplication in sex chromosome evolution in Australian ridge-tailed goannas.
Sci Rep
March 2025
Centre for Conservation Ecology and Genomics, Institute for Applied Ecology, Faculty of Science and Technology, University of Canberra, Canberra, ACT, 2601, Australia.
Varanids are known for conserved sex chromosomes, but there are differences in the size of the W chromosome but not in morphology among species representing varying stages of sex chromosome evolution. We tested for homology of the ZW sex chromosome system with size differences in varanids among four species from two lineages in Australia, the Odatria and the Gouldii. We found that while DNA sequences of the sex chromosomes are conserved in the species we tested, we also identified a homologous region on an enlarged autosomal microchromosome that shares sequences with the W chromosome in some isolated populations of V.
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