{"id":340,"title":"Y chromosome instability in the early mouse embryo","title_zh":"小鼠早期胚胎中Y染色体的不稳定性","url":"https://pubmed.ncbi.nlm.nih.gov/42993844","doi":"10.1126/sciadv.aej3098","pmid":"42993844","journal":"Sci Adv","kind":"paper","lang":"en","published_at":"2026-11-06T00:00:00+00:00","fetched_at":"2026-11-08T03:44:12+00:00","authors":["Zielinska AP","Rietdijk R","Maciulyte V","Courtois A","Turner JMA"],"primary_topic":"male","topics":[{"slug":"male","score":4.0,"hits":["y chromosome"]},{"slug":"animal-models","score":2.4,"hits":["mouse embryo"]},{"slug":"oocyte","score":1.0,"hits":["spindle"]},{"slug":"pgt","score":1.0,"hits":["mosaic embryos"]}],"topic_score":4.0,"preference_score":0.0,"preference_labels":[],"llm_score":80.0,"final_score":88.0,"score_dims":{"novelty":88,"rigor":85,"impact":78,"relevance":70,"translation":58},"recommend_reason":"首次在体内定位小鼠胚胎早期分裂中Y着丝粒薄弱窗口，并建立可追踪嵌合非整倍体的聚集模型，机制与工具均有新意；对理解胚胎性染色体丢失、性腺发育与XO起源有直接价值。","keywords":["Y染色体","着丝粒","染色体不分离","小鼠早期胚胎","Turner综合征","嵌合体模型"],"selected":1,"story_id":19,"llm_provider":"deepseek","llm_model":"deepseek-flash","llm_effort":"low","source_key":"pubmed-top-journals","source_name":"PubMed · CNS/大子刊/四大医学刊（生殖相关）","source_tier":1,"mention_count":2,"has_interpretation":false,"journal_key":"sci-adv","journal_tier":"cns-sub","journal_if":11.7,"is_mock":false,"summary_zh":"该研究以小鼠为模型，系统追踪早期胚胎有丝分裂中Y染色体的行为。作者发现，由于Y染色体缺乏经典着丝粒重复序列，其着丝粒在第一次胚胎有丝分裂期间异常薄弱，动粒强度受损，使Y染色体更易被滞留在纺锤体极，从而发生错分离。为评估Y丢失后的影响，研究团队建立嵌合胚胎聚集模型，用于追踪特定非整倍体；结果显示，Y染色体丢失会减慢细胞分裂，并使胚胎体积减小。研究界定了Y染色体易丢失的发育时间窗，为男性性别决定机制及Turner综合征（XO）的起源提供了新线索。","summary":"The Y chromosome lacks canonical centromeric repeats necessary for high-fidelity chromosome segregation. In adult tissues, this causes Y loss and predisposes to disease. However, its impact on embryogenesis is unknown. Here, we identify the first mouse embryonic mitoses as a window during which the Y centromere is unusually weak. This vulnerability impairs kinetochore strength and the Y becomes preferentially trapped at the spindle pole, resulting in missegregation. To study the impact of Y loss, we generate an aggregation model to track specific aneuploidies in mosaic embryos. Loss of the Y slows down cell division and compromises embryo size. Our findings reveal a developmental window during which the Y is especially vulnerable to loss, with implications for male sex determination and the origin of Turner syndrome (XO).","interpretation_basis":null,"fulltext_status":"not_found","interpretation":null,"fulltext":{"available":false,"status":"not_found","reason":"Europe PMC 无此记录：DOI 10.1126/sciadv.aej3098","pmcid":null,"license":null,"chars":0,"source":"Europe PMC","fetched_at":"2026-11-08T04:17:14+00:00"}}