RNA splicing is a primary link between genetic variation and disease-Reference-Cited by-同舟云学术

RNA splicing is a primary link between genetic variation and disease

Published:2016-04-29 Issue:6285 Volume:352 Page:600-604
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Li Yang I.¹,van de Geijn Bryce²,Raj Anil¹,Knowles David A.³⁴,Petti Allegra A.⁵,Golan David¹,Gilad Yoav²,Pritchard Jonathan K.¹⁶⁷

Affiliation:

1. Department of Genetics, Stanford University, Stanford, CA, USA.

2. Department of Human Genetics, University of Chicago, Chicago, IL, USA.

3. Department of Computer Science, Stanford University, Stanford, CA, USA.

4. Department of Radiology, Stanford University, Stanford, CA, USA.

5. Genome Institute, Washington University in St. Louis, St. Louis, MO, USA.

6. Department of Biology, Stanford University, Stanford, CA, USA.

7. Howard Hughes Medical Institute, Stanford University, Stanford, CA, USA.

Abstract

RNA splicing links genetics to disease Many genetic variants associated with disease have no apparent effect on any specific protein coding sequence. Li et al. systematically analyzed the effects of DNA variants on the main steps of gene regulation, from the chromatin state through protein function. One-third of expression quantitative train loci (QTLs) are mediated through transcriptional processes, not chromatin. Splice QTLs and expression QTLs are about comparable in their complex disease risk. Posttranscriptional mechanisms therefore play a large role in translating genotype to phenotype. Science , this issue p. 600

Funder

NIH

Center for Computational, Evolutionary and Human Genomics Fellowship

Howard Hughes Medical Institute

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

Reference53 articles.

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