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Paternally inherited cis-regulatory structural variants are associated with autism
- Source :
- Science (New York, N.Y.), vol 360, iss 6386, Brandler, WM; Antaki, D; Gujral, M; Kleiber, ML; Whitney, J; Maile, MS; et al.(2018). Paternally inherited cis-regulatory structural variants are associated with autism. SCIENCE, 360(6386), 327-330. doi: 10.1126/science.aan2261. UC San Diego: Retrieved from: http://www.escholarship.org/uc/item/5vm6k60d, Science, r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu, instname, r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
- Publication Year :
- 2018
- Publisher :
- American Association for the Advancement of Science (AAAS), 2018.
-
Abstract
- Inherited variation contributes to autismAbout one-quarter of genetic variants that are associated with autism spectrum disorder (ASD) are due to de novo mutations in protein-coding genes. Brandleret al.wanted to determine whether changes in noncoding regions of the genome are associated with autism. They applied whole-genome sequencing to ∼2600 families with at least one affected child. Children with ASD had inherited structural variants in noncoding regions from their father. Regulatory regions of some specific genes were disrupted among multiple families, supporting the idea that a component of autism risk involves inherited noncoding variation.Science, this issue p.327
- Subjects :
- 0301 basic medicine
RNA, Untranslated
Autism Spectrum Disorder
Autism
medicine.disease_cause
2.1 Biological and endogenous factors
Aetiology
Promoter Regions, Genetic
Paternal Inheritance
Sequence Deletion
Pediatric
Genetics
Mutation
Genome
Multidisciplinary
Natural selection
Untranslated
Exons
Pedigree
Mental Health
Autism spectrum disorder
Human
General Science & Technology
Intellectual and Developmental Disabilities (IDD)
Biology
Article
Promoter Regions
03 medical and health sciences
Genetic
Clinical Research
mental disorders
Genetic variation
medicine
Humans
Genetic Predisposition to Disease
Selection, Genetic
Selection
Gene
Genome, Human
Genetic Variation
medicine.disease
Brain Disorders
030104 developmental biology
Gene Expression Regulation
Congenital Structural Anomalies
RNA
Human genome
Transcription Factors
Subjects
Details
- ISSN :
- 10959203 and 00368075
- Volume :
- 360
- Database :
- OpenAIRE
- Journal :
- Science
- Accession number :
- edsair.doi.dedup.....8ee70d7ed31915a819d2f3c7ed34e750
- Full Text :
- https://doi.org/10.1126/science.aan2261