Related Experiment Video
Updated: Feb 11, 2026

Quantitative Comparison of cis-Regulatory Element CRE Activities in Transgenic Drosophila melanogaster
Published on: December 19, 2011
Paternally inherited cis-regulatory structural variants are associated with autism
William M Brandler1,2,3,4, Danny Antaki1,2,3,5, Madhusudan Gujral1,2,3
1Beyster Center for Genomics of Psychiatric Diseases, University of California San Diego, La Jolla, CA 92093, USA.
Abstract:
The genetic basis of autism spectrum disorder (ASD) is known to consist of contributions from de novo mutations in variant-intolerant genes. We hypothesize that rare inherited structural variants in cis-regulatory elements (CRE-SVs) of these genes also contribute to ASD. We investigated this by assessing the evidence for natural selection and transmission distortion of CRE-SVs in whole genomes of 9274 subjects from 2600 families affected by ASD. In a discovery cohort of 829 families, structural variants were depleted within promoters and untranslated regions, and paternally inherited CRE-SVs were preferentially transmitted to affected offspring and not to their unaffected siblings. The association of paternal CRE-SVs was replicated in an independent sample of 1771 families. Our results suggest that rare inherited noncoding variants predispose children to ASD, with differing contributions from each parent.
Related Concept Videos
Cis-regulatory Sequences
Cis-regulatory Sequences
Inheritance of Chromatin Structures
Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Chromosomal Theory of Inheritance
Histone Variants at the Centromere

