REC8 is a key component of the meiotic cohesin complex. During meiosis, cohesin is required for the establishment and maintenance of sister-chromatid cohesion, for the formation of the synaptonemal complex, and for recombination between homologous chromosomes. We show that REC8 has an essential role in mammalian meiosis, in that Rec8 null mice of both sexes have germ cell failure and are sterile. In the absence of REC8, early chromosome pairing events appear normal, but synapsis occurs in a novel fashion: between sister chromatids. This implies that a major role for REC8 in mammalian meiosis is to limit synapsis to between homologous chromosomes. In all other eukaryotic species studied to date, REC8 phenotypes have been restricted to meiosis. Unexpectedly, Rec8 null mice are born in sub-Mendelian frequencies and fail to thrive. These findings illuminate hitherto unknown REC8 functions in chromosome dynamics during mammalian meiosis and possibly in somatic development.
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http://dx.doi.org/10.1016/j.devcel.2005.03.018 | DOI Listing |
Glob Health Action
December 2024
College of Economics and Management, China Agricultural University, Beijing, China.
Background: The prevalence of allergic diseases in China has risen significantly over the past decades, affecting the quality of life for approximately 40% of the population.
Objectives: This study aimed to integrate survey and genomic data to explore the potential causal relationship between alcohol consumption and allergic diseases.
Method: In collaboration with a leading genetic testing company in China, we collected data on 3,041 participants via an online survey between December 2018 and October 2019.
J Obstet Gynaecol Res
January 2025
Reproductive Sciences and Technology Research Center, Department of Anatomy, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.
Objective: To evaluate the efficacy of a microfluidic culture system supplemented with follicular fluid meiosis-activating sterol (FF-MAS) on the maturation of immature oocytes in patients with polycystic ovarian syndrome (PCOS).
Methods: A total of 438 germinal vesicle oocytes from 163 PCOS patients were included. Oocytes were divided into five groups: (1) cultured in static drops without FF-MAS, (2) cultured in static drops with FF-MAS, (3) cultured in a microfluidic device without FF-MAS, (4) cultured in a microfluidic device with FF-MAS for the first 2 h, and (5) cultured in a microfluidic device with FF-MAS for 24 h.
Clin Transl Med
January 2025
State Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, China.
Background: Numerous pathogenic variants causing human oocyte maturation arrest have been reported on the primate-specific TUBB8 gene. The main etiology is the dramatic reduction of tubulin α/β dimer, but still large numbers of variants remain unexplained.
Methods: Using microinjection mRNA and genome engineering to reintroduce the conserved pathogenic missense variants into oocytes or in generating TUBB8 variant knock-in mouse models, we investigated that the human deleterious variants alter microtubule nucleation and spindle assembly during meiosis.
Nat Commun
January 2025
State Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, China.
Transcription elongation, especially RNA polymerase II (Pol II) pause-release, is less studied than transcription initiation in regulating gene expression during meiosis. It is also unclear how transcription elongation interplays with transcription initiation. Here, we show that depletion of NKAPL, a testis-specific protein distantly related to RNA splicing factors, causes male infertility in mice by blocking the meiotic exit and downregulating haploid genes.
View Article and Find Full Text PDFDevelopment
January 2025
School of Biomedical Sciences, The University of Queensland, Brisbane, Queensland 4072, Australia.
A successful mitosis-to-meiosis transition in germ cells is essential for fertility in sexually reproducing organisms. In mice and humans, it is established that expression of STRA8 is critical for meiotic onset in both sexes. Here we show that BMP signalling is also essential, not for STRA8 induction but for correct meiotic progression in female mouse fetal germ cells.
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