Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing
Min Chen,Chencheng Yao,Yingying Qin,Xiuhong Cui,Peng Li,Zhi-Yong Ji,Li-mian Lin,Haowei Wu,Zhi-hang Zhou,Yaoting Gui,Zheng Li,Fei Gao +11 more
TLDR
It is concluded that the four-nucleotide deletion is the pathological cause of NOA in patient P8944, and the inactivation of MSH5 causes defects in germ cell development in the mouse model.About:
This article is published in Signal Transduction and Targeted Therapy.The article was published on 2022-01-03 and is currently open access. It has received 93 citations till now. The article focuses on the topics: Medicine & Azoospermia.read more
Citations
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Human serum from SARS-CoV-2-vaccinated and COVID-19 patients shows reduced binding to the RBD of SARS-CoV-2 Omicron variant
TL;DR: In this paper , the binding of the Omicron RBD to the human angiotensin-converting enzyme-2 receptor (ACE2) and the ability of human sera from COVID-19 patients or vaccinees in comparison to Wuhan, Beta, or Delta RBD variants were analyzed.
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Meiotic recombination: insights into its mechanisms and its role in human reproduction with a special focus on non-obstructive azoospermia.
TL;DR: The cumulative results suggest that variants of meiotic recombination-related genes can cause human subfertility or infertility, especially NOA, and should be avoided when an NOA-affected individual carries definite disease-causing mutations of a meiotic gene.
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OUP accepted manuscript
TL;DR: In this article , the molecular mechanisms of meiotic recombination and related human infertility disorders, particularly male infertility caused by non-obstructive azoospermia (NOA), were investigated.
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A comprehensive analysis of the mutational landscape of the newly emerging Omicron (B.1.1.529) variant and comparison of mutations with VOCs and VOIs
Chiranjib Chakraborty,Manojit Bhattacharya,Ashish Ranjan Sharma,Kuldeep Dhama,Govindasamy Agoramoorthy +4 more
TL;DR: In this article , the authors comprehensively analyzed Omicron's mutational landscape and compared mutations with VOC/VOI, and analyzed SNVs throughout the genome, and AA variants (NSP and SP) with high mutation prevalence (> 75% frequency) of OmicRON, which demonstrated eight mutations with > 90% prevalence in ORF1a and 29 mutations with ≥ 75% prevalence of S-glycoprotein.
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Germline stem cells in human
TL;DR: A review of current advances in these embryonic and adult germline stem cells, and the induced PGCLCs in humans, provide an overview of molecular mechanisms underlying the development and differentiation of the stem cells and outline their physiological functions, pathological implications, and clinical applications as mentioned in this paper .
References
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MutS homolog 4 localization to meiotic chromosomes is required for chromosome pairing during meiosis in male and female mice
Burkhard Kneitz,Paula E. Cohen,Elena Avdievich,Liyin Zhu,Michael F. Kane,Harry Hou,Richard D. Kolodner,Raju Kucherlapati,Jeffrey W. Pollard,Winfried Edelmann +9 more
TL;DR: It is demonstrated that MSH4 is present in the nuclei of spermatocytes early in prophase I and that it forms discrete foci along meiotic chromosomes during the zygotene and pachytene stages of meiosis.
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Mammalian MutS homologue 5 is required for chromosome pairing in meiosis
Winfried Edelmann,Paula E. Cohen,Burkhard Kneitz,Nena J. Winand,Marie Lia,Joerg Heyer,Richard D. Kolodner,Jeffrey W. Pollard,Raju Kucherlapati +8 more
TL;DR: Results show that normal Msh5 function is essential for meiotic progression and, in females, gonadal maintenance, and that this meiotic failure leads to a diminution in testicular size and a complete loss of ovarian structures.
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Mutations in MSH5 in primary ovarian insufficiency
Ting Guo,Shidou Zhao,Shigang Zhao,Min Chen,Guangyu Li,Xue Jiao,Zhao Wang,Yueran Zhao,Yingying Qin,Fei Gao,Zi-Jiang Chen,Zi-Jiang Chen +11 more
TL;DR: The studies confirmed that perturbation of genes involved in DNA damage repair could lead to non-syndromic POI and the underlying mechanism-inability to repair DNA damage-will receive increasing attention with respect to POI.
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Genetic Landscape of Nonobstructive Azoospermia and New Perspectives for the Clinic.
TL;DR: A comprehensive and updated overview of the genetic basis of nonobstructive azoospermia is provided, with a special focus on the possible application of the recent insights in clinical practice.
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In vivo microinjection and electroporation of mouse testis.
TL;DR: The main advantages of the electroporation technique are fast performance in combination with low effort as well as the moderate technical equipment and skills required compared to alternative techniques.