Prioritization of putatively detrimental variants in euploid miscarriages

Silvia Buonaiuto; Immacolata Di Biase; Valentina Aleotti; Amin Ravaei; Adriano De Marino; Gianluca Damaggio; Marco Chierici; Madhuri Pulijala; Palmira D’Ambrosio; Gabriella Esposito; Qasim Ayub; Cesare Furlanello; Pantaleo Greco; Antonio Capalbo; Michele Rubini; Sebastiano Di Biase; Vincenza Colonna

doi:10.1038/s41598-022-05737-3

Prioritization of putatively detrimental variants in euploid miscarriages

Silvia Buonaiuto, Immacolata Di Biase, Valentina Aleotti, Amin Ravaei, Adriano De Marino, Gianluca Damaggio, Marco Chierici, Madhuri Pulijala, Palmira D’Ambrosio, Gabriella Esposito, Qasim Ayub, Cesare Furlanello, Pantaleo Greco, Antonio Capalbo, Michele Rubini, Sebastiano Di Biase, Vincenza Colonna

Malaysia Sch of Science

Research output: Contribution to journal › Article › Research › peer-review

2 Citations (Scopus)

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.

Original language	English
Article number	1997
Number of pages	12
Journal	Scientific Reports
Volume	12
Issue number	1
DOIs	https://doi.org/10.1038/s41598-022-05737-3
Publication status	Published - 7 Feb 2022

Access to Document

10.1038/s41598-022-05737-3Licence: CC BY

379643611-oaFinal published version, 3.64 MBLicence: CC BY

Cite this

Buonaiuto, S., Biase, I. D., Aleotti, V., Ravaei, A., Marino, A. D., Damaggio, G., Chierici, M., Pulijala, M., D’Ambrosio, P., Esposito, G., Ayub, Q., Furlanello, C., Greco, P., Capalbo, A., Rubini, M., Biase, S. D., & Colonna, V. (2022). Prioritization of putatively detrimental variants in euploid miscarriages. Scientific Reports, 12(1), Article 1997. https://doi.org/10.1038/s41598-022-05737-3

@article{269f8a0d499b46269234f1f3a88e048a,

title = "Prioritization of putatively detrimental variants in euploid 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.",

author = "Silvia Buonaiuto and Biase, {Immacolata Di} and Valentina Aleotti and Amin Ravaei and Marino, {Adriano De} and Gianluca Damaggio and Marco Chierici and Madhuri Pulijala and Palmira D{\textquoteright}Ambrosio and Gabriella Esposito and Qasim Ayub and Cesare Furlanello and Pantaleo Greco and Antonio Capalbo and Michele Rubini and Biase, {Sebastiano Di} and Vincenza Colonna",

note = "Funding Information: We are thankful to all volunteers that were enrolled in the study, as well as all the medical personnel that contributed to the collection of samples. We are also thankful to Prof. Nicole Soranzo and Prof. Erik Garrison for help in the early stage of the project. Publisher Copyright: {\textcopyright} 2022, The Author(s).",

year = "2022",

month = feb,

day = "7",

doi = "10.1038/s41598-022-05737-3",

language = "English",

volume = "12",

journal = "Scientific Reports",

issn = "2045-2322",

publisher = "Nature Publishing Group",

number = "1",

}

Buonaiuto, S, Biase, ID, Aleotti, V, Ravaei, A, Marino, AD, Damaggio, G, Chierici, M, Pulijala, M, D’Ambrosio, P, Esposito, G, Ayub, Q, Furlanello, C, Greco, P, Capalbo, A, Rubini, M, Biase, SD & Colonna, V 2022, 'Prioritization of putatively detrimental variants in euploid miscarriages', Scientific Reports, vol. 12, no. 1, 1997. https://doi.org/10.1038/s41598-022-05737-3

TY - JOUR

T1 - Prioritization of putatively detrimental variants in euploid miscarriages

AU - Buonaiuto, Silvia

AU - Biase, Immacolata Di

AU - Aleotti, Valentina

AU - Ravaei, Amin

AU - Marino, Adriano De

AU - Damaggio, Gianluca

AU - Chierici, Marco

AU - Pulijala, Madhuri

AU - D’Ambrosio, Palmira

AU - Esposito, Gabriella

AU - Ayub, Qasim

AU - Furlanello, Cesare

AU - Greco, Pantaleo

AU - Capalbo, Antonio

AU - Rubini, Michele

AU - Biase, Sebastiano Di

AU - Colonna, Vincenza

N1 - Funding Information: We are thankful to all volunteers that were enrolled in the study, as well as all the medical personnel that contributed to the collection of samples. We are also thankful to Prof. Nicole Soranzo and Prof. Erik Garrison for help in the early stage of the project. Publisher Copyright: © 2022, The Author(s).

PY - 2022/2/7

Y1 - 2022/2/7

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85124299590&partnerID=8YFLogxK

U2 - 10.1038/s41598-022-05737-3

DO - 10.1038/s41598-022-05737-3

M3 - Article

C2 - 35132093

AN - SCOPUS:85124299590

SN - 2045-2322

VL - 12

JO - Scientific Reports

JF - Scientific Reports

IS - 1

M1 - 1997

ER -

Prioritization of putatively detrimental variants in euploid miscarriages

Abstract

Access to Document

Other files and links

Cite this