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Fetal de novo mutations and preterm birth.
Li, Jingjing; Oehlert, John; Snyder, Michael; Stevenson, David K; Shaw, Gary M.
Afiliación
  • Li J; Division of Neonatal and Developmental Medicine, Department of Pediatrics, Stanford University, School of Medicine, Stanford, CA, California, United States of America.
  • Oehlert J; Department of Genetics, Center for Genomics and Personalized Medicine Stanford University, School of Medicine, Stanford, CA, California, United States of America.
  • Snyder M; Division of Neonatal and Developmental Medicine, Department of Pediatrics, Stanford University, School of Medicine, Stanford, CA, California, United States of America.
  • Stevenson DK; Department of Genetics, Center for Genomics and Personalized Medicine Stanford University, School of Medicine, Stanford, CA, California, United States of America.
  • Shaw GM; Division of Neonatal and Developmental Medicine, Department of Pediatrics, Stanford University, School of Medicine, Stanford, CA, California, United States of America.
PLoS Genet ; 13(4): e1006689, 2017 04.
Article en En | MEDLINE | ID: mdl-28388617
Preterm birth (PTB) affects ~12% of pregnancies in the US. Despite its high mortality and morbidity, the molecular etiology underlying PTB has been unclear. Numerous studies have been devoted to identifying genetic factors in maternal and fetal genomes, but so far few genomic loci have been associated with PTB. By analyzing whole-genome sequencing data from 816 trio families, for the first time, we observed the role of fetal de novo mutations in PTB. We observed a significant increase in de novo mutation burden in PTB fetal genomes. Our genomic analyses further revealed that affected genes by PTB de novo mutations were dosage sensitive, intolerant to genomic deletions, and their mouse orthologs were likely developmentally essential. These genes were significantly involved in early fetal brain development, which was further supported by our analysis of copy number variants identified from an independent PTB cohort. Our study indicates a new mechanism in PTB occurrence independently contributed from fetal genomes, and thus opens a new avenue for future PTB research.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encéfalo / Genoma Humano / Nacimiento Prematuro / Desarrollo Fetal Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Animals / Female / Humans / Pregnancy Idioma: En Revista: PLoS Genet Asunto de la revista: GENETICA Año: 2017 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
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XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encéfalo / Genoma Humano / Nacimiento Prematuro / Desarrollo Fetal Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Animals / Female / Humans / Pregnancy Idioma: En Revista: PLoS Genet Asunto de la revista: GENETICA Año: 2017 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos