Errors of the Egg: The Establishment and Progression of Human Aneuploidy Research in the Maternal Germline
Publikation: Bidrag til tidsskrift › Review › Forskning › fagfællebedømt
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Errors of the Egg : The Establishment and Progression of Human Aneuploidy Research in the Maternal Germline. / Gruhn, Jennifer R.; Hoffmann, Eva R.
I: Annual Review of Genetics, Bind 56, 2022, s. 369-390.Publikation: Bidrag til tidsskrift › Review › Forskning › fagfællebedømt
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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 -
ID: 330391125