{"title":"卵子的错误:人类母种系非整倍体研究的建立与进展。","authors":"Jennifer R Gruhn, Eva R Hoffmann","doi":"10.1146/annurev-genet-072820-033609","DOIUrl":null,"url":null,"abstract":"<p><p>Meiosis, a key process in the creation of haploid gametes, is a complex cellular division incorporating unique timing and intricate chromosome dynamics. Abnormalities in this elaborate dance can lead to the production of aneuploid gametes, i.e., eggs containing an incorrect number of chromosomes, many of which cannot generate a viable pregnancy. For many decades, research has been attempting to address why this process is notoriously error prone in humans compared to many other organisms. Rapidly developing technologies, access to new clinical material, and a mounting public infertility crisis have kept the field both active and quickly evolving. In this review, we discuss the history of aneuploidy in humans with a focus on its origins in maternal meiosis. We also gather current working mechanistic hypotheses, as well as up-and-coming areas of interest that point to future scientific avenues and their potential clinical applications.</p>","PeriodicalId":8035,"journal":{"name":"Annual review of genetics","volume":"56 ","pages":"369-390"},"PeriodicalIF":8.7000,"publicationDate":"2022-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"8","resultStr":"{\"title\":\"Errors of the Egg: The Establishment and Progression of Human Aneuploidy Research in the Maternal Germline.\",\"authors\":\"Jennifer R Gruhn, Eva R Hoffmann\",\"doi\":\"10.1146/annurev-genet-072820-033609\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Meiosis, a key process in the creation of haploid gametes, is a complex cellular division incorporating unique timing and intricate chromosome dynamics. Abnormalities in this elaborate dance can lead to the production of aneuploid gametes, i.e., eggs containing an incorrect number of chromosomes, many of which cannot generate a viable pregnancy. For many decades, research has been attempting to address why this process is notoriously error prone in humans compared to many other organisms. Rapidly developing technologies, access to new clinical material, and a mounting public infertility crisis have kept the field both active and quickly evolving. In this review, we discuss the history of aneuploidy in humans with a focus on its origins in maternal meiosis. We also gather current working mechanistic hypotheses, as well as up-and-coming areas of interest that point to future scientific avenues and their potential clinical applications.</p>\",\"PeriodicalId\":8035,\"journal\":{\"name\":\"Annual review of genetics\",\"volume\":\"56 \",\"pages\":\"369-390\"},\"PeriodicalIF\":8.7000,\"publicationDate\":\"2022-11-30\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"8\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Annual review of genetics\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"https://doi.org/10.1146/annurev-genet-072820-033609\",\"RegionNum\":1,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annual review of genetics","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1146/annurev-genet-072820-033609","RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
Errors of the Egg: The Establishment and Progression of Human Aneuploidy Research in the Maternal Germline.
Meiosis, a key process in the creation of haploid gametes, is a complex cellular division incorporating unique timing and intricate chromosome dynamics. Abnormalities in this elaborate dance can lead to the production of aneuploid gametes, i.e., eggs containing an incorrect number of chromosomes, many of which cannot generate a viable pregnancy. For many decades, research has been attempting to address why this process is notoriously error prone in humans compared to many other organisms. Rapidly developing technologies, access to new clinical material, and a mounting public infertility crisis have kept the field both active and quickly evolving. In this review, we discuss the history of aneuploidy in humans with a focus on its origins in maternal meiosis. We also gather current working mechanistic hypotheses, as well as up-and-coming areas of interest that point to future scientific avenues and their potential clinical applications.
期刊介绍:
The Annual Review of Genetics, published since 1967, comprehensively covers significant advancements in genetics. It encompasses various areas such as biochemical, behavioral, cell, and developmental genetics, evolutionary and population genetics, chromosome structure and transmission, gene function and expression, mutation and repair, genomics, immunogenetics, and other topics related to the genetics of viruses, bacteria, fungi, plants, animals, and humans.