{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nSHOC1 has emerged as a critical factor in meiotic recombination, an essential process ensuring accurate homologous chromosome pairing and crossover formation during gametogenesis. Earlier investigations into idiopathic non‐obstructive azoospermia (NOA) with meiotic arrest highlighted major gaps in identifying the genetic causes of this condition."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " \n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nMore recent work has identified bi‐allelic variants in SHOC1 in NOA patients, with both loss‐of‐function and missense mutations resulting in impaired spermatocyte maturation. Detailed analyses in patient samples and Shoc1‐deficient mouse models show that, in addition to its established role in facilitating crossover formation during meiosis, SHOC1 likely has a presynaptic function crucial for homologous pairing and synapsis. Disruptions in SHOC1 lead to abnormal expression and/or localization of key recombination proteins such as DMC1, RAD51, and RPA2, thereby impeding proper meiotic recombination and resulting in infertility."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Chencheng Yao, Chao Yang, Liangyu Zhao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Bi-allelic "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "SHOC1"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " loss-of-function mutations cause meiotic arrest and non-obstructive azoospermia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Med Genet (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/jmedgenet-2020-107042"}], "href": "https://doi.org/10.1136/jmedgenet-2020-107042"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32900840"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32900840"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Weili Wang, Lanlan Meng, Jiaxin He, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Bi-allelic variants in SHOC1 cause non-obstructive azoospermia with meiosis arrest in humans and mice."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Hum Reprod (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/molehr/gaac015"}], "href": "https://doi.org/10.1093/molehr/gaac015"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35485979"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35485979"}]}]}]}