TY - JOUR

T1 - Errors of the Egg

T2 - The Establishment and Progression of Human Aneuploidy Research in the Maternal Germline

AU - Gruhn, Jennifer R.

AU - Hoffmann, Eva R.

PY - 2022

Y1 - 2022

N2 - 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.

AB - 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.

KW - chromosome segregation

KW - congenital disorders

KW - fertility

KW - human eggs

KW - meiosis

U2 - 10.1146/annurev-genet-072820-033609

DO - 10.1146/annurev-genet-072820-033609

M3 - Review

C2 - 36055648

AN - SCOPUS:85143180531

VL - 56

SP - 369

EP - 390

JO - Annual Review of Genetics

JF - Annual Review of Genetics

SN - 0066-4197

ER -