Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2

Handle URI:
http://hdl.handle.net/10754/626024
Title:
Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2
Authors:
Maddirevula, Sateesh; Coskun, Serdar; Alhassan, Saad; Elnour, Atif; Alsaif, Hessa S.; Ibrahim, Niema; Abdulwahab, Firdous; Arold, Stefan T. ( 0000-0001-5278-0668 ) ; Alkuraya, Fowzan S.
Abstract:
Infertility is a relatively common disorder of the reproductive system and remains unexplained in many cases. In vitro fertilization techniques have uncovered previously unrecognized infertility phenotypes, including oocyte maturation arrest, the molecular etiology of which remains largely unknown. We report two families affected by female-limited infertility caused by oocyte maturation failure. Positional mapping and whole-exome sequencing revealed two homozygous, likely deleterious variants in PATL2, each of which fully segregates with the phenotype within the respective family. PATL2 encodes a highly conserved oocyte-specific mRNP repressor of translation. Previous data have shown the strict requirement for PATL2 in oocyte-maturation in model organisms. Data gathered from the families in this study suggest that the role of PATL2 is conserved in humans and expand our knowledge of the factors that are necessary for female meiosis.
KAUST Department:
Biological and Environmental Sciences and Engineering (BESE) Division; Computational Bioscience Research Center (CBRC)
Citation:
Maddirevula S, Coskun S, Alhassan S, Elnour A, Alsaif HS, et al. (2017) Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2. The American Journal of Human Genetics 101: 603–608. Available: http://dx.doi.org/10.1016/j.ajhg.2017.08.009.
Publisher:
Elsevier BV
Journal:
The American Journal of Human Genetics
Issue Date:
29-Sep-2017
DOI:
10.1016/j.ajhg.2017.08.009
Type:
Article
ISSN:
0002-9297
Sponsors:
We thank the study participants for their enthusiastic participation. We also thank the Sequencing and Genotyping Core Facilities at the King Faisal Specialist Hospital and Research Center for their technical help. This work was funded in part by the King Abdulaziz City for Science and Technology (13-BIO1113-20), and we acknowledge the support of the Saudi Human Genome Project. The research reported by S.T.A. in this publication was supported by funding from the King Abdullah University of Science and Technology.
Additional Links:
http://www.sciencedirect.com/science/article/pii/S0002929717303312
Appears in Collections:
Articles; Computational Bioscience Research Center (CBRC); Biological and Environmental Sciences and Engineering (BESE) Division

Full metadata record

DC FieldValue Language
dc.contributor.authorMaddirevula, Sateeshen
dc.contributor.authorCoskun, Serdaren
dc.contributor.authorAlhassan, Saaden
dc.contributor.authorElnour, Atifen
dc.contributor.authorAlsaif, Hessa S.en
dc.contributor.authorIbrahim, Niemaen
dc.contributor.authorAbdulwahab, Firdousen
dc.contributor.authorArold, Stefan T.en
dc.contributor.authorAlkuraya, Fowzan S.en
dc.date.accessioned2017-10-30T08:39:51Z-
dc.date.available2017-10-30T08:39:51Z-
dc.date.issued2017-09-29en
dc.identifier.citationMaddirevula S, Coskun S, Alhassan S, Elnour A, Alsaif HS, et al. (2017) Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2. The American Journal of Human Genetics 101: 603–608. Available: http://dx.doi.org/10.1016/j.ajhg.2017.08.009.en
dc.identifier.issn0002-9297en
dc.identifier.doi10.1016/j.ajhg.2017.08.009en
dc.identifier.urihttp://hdl.handle.net/10754/626024-
dc.description.abstractInfertility is a relatively common disorder of the reproductive system and remains unexplained in many cases. In vitro fertilization techniques have uncovered previously unrecognized infertility phenotypes, including oocyte maturation arrest, the molecular etiology of which remains largely unknown. We report two families affected by female-limited infertility caused by oocyte maturation failure. Positional mapping and whole-exome sequencing revealed two homozygous, likely deleterious variants in PATL2, each of which fully segregates with the phenotype within the respective family. PATL2 encodes a highly conserved oocyte-specific mRNP repressor of translation. Previous data have shown the strict requirement for PATL2 in oocyte-maturation in model organisms. Data gathered from the families in this study suggest that the role of PATL2 is conserved in humans and expand our knowledge of the factors that are necessary for female meiosis.en
dc.description.sponsorshipWe thank the study participants for their enthusiastic participation. We also thank the Sequencing and Genotyping Core Facilities at the King Faisal Specialist Hospital and Research Center for their technical help. This work was funded in part by the King Abdulaziz City for Science and Technology (13-BIO1113-20), and we acknowledge the support of the Saudi Human Genome Project. The research reported by S.T.A. in this publication was supported by funding from the King Abdullah University of Science and Technology.en
dc.publisherElsevier BVen
dc.relation.urlhttp://www.sciencedirect.com/science/article/pii/S0002929717303312en
dc.subjectMeiosisen
dc.subjectIVFen
dc.subjectGvbden
dc.subjectP100en
dc.subjectMaturation Arresten
dc.subjectPat1aen
dc.titleFemale Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2en
dc.typeArticleen
dc.contributor.departmentBiological and Environmental Sciences and Engineering (BESE) Divisionen
dc.contributor.departmentComputational Bioscience Research Center (CBRC)en
dc.identifier.journalThe American Journal of Human Geneticsen
dc.contributor.institutionDepartment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabiaen
dc.contributor.institutionDepartment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.en
dc.contributor.institutionCollege of Medicine, Alfaisal University, Riyadh, Saudi Arabia.en
dc.contributor.institutionDepartment of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabiaen
dc.contributor.institutionDepartment of Obstetrics and Gynecology, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.en
dc.contributor.institutionDr. Sulaiman Al Habib Medical Group, Olaya Complex, Riyadh 11643, Saudi Arabia.en
dc.contributor.institutionSaudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 11442, Saudi Arabia.en
dc.contributor.institutionDepartment of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabiaen
kaust.authorArold, Stefan T.en
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