Prioritization of putatively detrimental variants in euploid miscarriages

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...

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Published inScientific reports Vol. 12; no. 1; pp. 1997 - 12
Main Authors Buonaiuto, Silvia, Biase, Immacolata Di, Aleotti, Valentina, Ravaei, Amin, Marino, Adriano De, Damaggio, Gianluca, Chierici, Marco, Pulijala, Madhuri, D’Ambrosio, Palmira, Esposito, Gabriella, Ayub, Qasim, Furlanello, Cesare, Greco, Pantaleo, Capalbo, Antonio, Rubini, Michele, Biase, Sebastiano Di, Colonna, Vincenza
Format Journal Article
LanguageEnglish
Published London Nature Publishing Group UK 07.02.2022
Nature Publishing Group
Nature Portfolio
Subjects
631/208/212/2301
631/208/2489/1381
Abortion, Spontaneous - genetics
Aneuploidy
Animals
Body mass index
Cell Cycle Proteins - genetics
Chromosomal Proteins, Non-Histone - genetics
Chromosome 9
Chromosomes
Chromosomes, Human, Pair 9 - genetics
Cohesin
Cohesins
Embryos
Female
Genetic Association Studies
Genetic Predisposition to Disease - genetics
Genetic Variation - genetics
Genomes
Genomics
Gestational age
Humanities and Social Sciences
Humans
Inactivation
Medical records
Mice
Miscarriage
Mothers
multidisciplinary
Mutation
Nuclear Proteins
Pregnancy
Receptors, Notch - genetics
Repressor Proteins
Science
Science (multidisciplinary)
Wnt protein
Wnt Proteins - genetics
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Abstract 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.
AbstractList 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.
Abstract 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.
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.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.
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.
ArticleNumber 1997
Author Biase, Sebastiano Di
Aleotti, Valentina
Rubini, Michele
Chierici, Marco
Furlanello, Cesare
Damaggio, Gianluca
Biase, Immacolata Di
Colonna, Vincenza
Ravaei, Amin
Marino, Adriano De
Capalbo, Antonio
Esposito, Gabriella
Buonaiuto, Silvia
Pulijala, Madhuri
D’Ambrosio, Palmira
Ayub, Qasim
Greco, Pantaleo
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Snippet 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...
Abstract Miscarriage is the spontaneous termination of a pregnancy before 24 weeks of gestation. We studied the genome of euploid miscarried embryos from...
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SubjectTerms 631/208/212/2301
631/208/2489/1381
Abortion, Spontaneous - genetics
Aneuploidy
Animals
Body mass index
Cell Cycle Proteins - genetics
Chromosomal Proteins, Non-Histone - genetics
Chromosome 9
Chromosomes
Chromosomes, Human, Pair 9 - genetics
Cohesin
Cohesins
Embryos
Female
Genetic Association Studies
Genetic Predisposition to Disease - genetics
Genetic Variation - genetics
Genomes
Genomics
Gestational age
Humanities and Social Sciences
Humans
Inactivation
Medical records
Mice
Miscarriage
Mothers
multidisciplinary
Mutation
Nuclear Proteins
Pregnancy
Receptors, Notch - genetics
Repressor Proteins
Science
Science (multidisciplinary)
Wnt protein
Wnt Proteins - genetics
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Title Prioritization of putatively detrimental variants in euploid miscarriages
URI https://link.springer.com/article/10.1038/s41598-022-05737-3
https://www.ncbi.nlm.nih.gov/pubmed/35132093
https://www.proquest.com/docview/2626121935
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https://pubmed.ncbi.nlm.nih.gov/PMC8821623
https://doaj.org/article/97530b1c29e640a5ba409b91d6359007
Volume 12
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