Prioritization of putatively detrimental variants in euploid miscarriages.
Abortion, Spontaneous
/ genetics
Aneuploidy
Animals
Cell Cycle Proteins
/ genetics
Chromosomal Proteins, Non-Histone
/ genetics
Chromosomes, Human, Pair 9
/ genetics
Female
Genetic Association Studies
Genetic Predisposition to Disease
/ genetics
Genetic Variation
/ genetics
Humans
Mice
Nuclear Proteins
Pregnancy
Receptors, Notch
/ genetics
Repressor Proteins
Wnt Proteins
/ genetics
Cohesins
Journal
Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288
Informations de publication
Date de publication:
07 02 2022
07 02 2022
Historique:
received:
22
04
2021
accepted:
11
01
2022
entrez:
8
2
2022
pubmed:
9
2
2022
medline:
16
3
2022
Statut:
epublish
Résumé
Miscarriage is the spontaneous termination of a pregnancy before 24 weeks of gestation. We studied the genome of euploid miscarried embryos from mothers in the range of healthy adult individuals to understand genetic susceptibility to miscarriage not caused by chromosomal aneuploidies. We developed GP , a pipeline that we used to prioritize 439 unique variants in 399 genes, including genes known to be associated with miscarriages. Among the prioritized genes we found STAG2 coding for the cohesin complex subunit, for which inactivation in mouse is lethal, and TLE4 a target of Notch and Wnt, physically interacting with a region on chromosome 9 associated to miscarriages.
Identifiants
pubmed: 35132093
doi: 10.1038/s41598-022-05737-3
pii: 10.1038/s41598-022-05737-3
pmc: PMC8821623
doi:
Substances chimiques
Cell Cycle Proteins
0
Chromosomal Proteins, Non-Histone
0
Nuclear Proteins
0
Receptors, Notch
0
Repressor Proteins
0
STAG2 protein, human
0
TLE4 protein, human
0
Wnt Proteins
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1997Informations de copyright
© 2022. The Author(s).
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