Identifying Autism Loci and Genes by Tracing Recent Shared Ancestry-Reference-Cited by-同舟云学术

Identifying Autism Loci and Genes by Tracing Recent Shared Ancestry

Published:2008-07-11 Issue:5886 Volume:321 Page:218-223
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Morrow Eric M.¹²³⁴⁵,Yoo Seung-Yun¹²³⁴⁵,Flavell Steven W.¹²³⁴⁵,Kim Tae-Kyung¹²³⁴⁵,Lin Yingxi¹²³⁴⁵,Hill Robert Sean¹²³⁴⁵,Mukaddes Nahit M.¹²³⁴⁵,Balkhy Soher¹²³⁴⁵,Gascon Generoso¹²³⁴⁵,Hashmi Asif¹²³⁴⁵,Al-Saad Samira¹²³⁴⁵,Ware Janice¹²³⁴⁵,Joseph Robert M.¹²³⁴⁵,Greenblatt Rachel¹²³⁴⁵,Gleason Danielle¹²³⁴⁵,Ertelt Julia A.¹²³⁴⁵,Apse Kira A.¹²³⁴⁵,Bodell Adria¹²³⁴⁵,Partlow Jennifer N.¹²³⁴⁵,Barry Brenda¹²³⁴⁵,Yao Hui¹²³⁴⁵,Markianos Kyriacos¹²³⁴⁵,Ferland Russell J.¹²³⁴⁵,Greenberg Michael E.¹²³⁴⁵,Walsh Christopher A.¹²³⁴⁵

Affiliation:

1. Division of Genetics, Children's Hospital Boston and Harvard Medical School, Boston, MA 02115, USA.

2. Department of Neurology and Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, Boston, MA 02115, USA.

3. Department of Psychiatry, Massachusetts General Hospital, Boston, MA 02114, USA.

4. Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA.

5. Autism Consortium, 10 Shattuck Street, Boston, MA 02115, USA.

Abstract

To find inherited causes of autism-spectrum disorders, we studied families in which parents share ancestors, enhancing the role of inherited factors. We mapped several loci, some containing large, inherited, homozygous deletions that are likely mutations. The largest deletions implicated genes, including PCDH10 ( protocadherin 10 ) and DIA1 ( deleted in autism1 , or c3orf58) , whose level of expression changes in response to neuronal activity, a marker of genes involved in synaptic changes that underlie learning. A subset of genes, including NHE9 ( Na + /H + exchanger 9 ), showed additional potential mutations in patients with unrelated parents. Our findings highlight the utility of âhomozygosity mappingâ in heterogeneous disorders like autism but also suggest that defective regulation of gene expression after neural activity may be a mechanism common to seemingly diverse autism mutations.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

Reference46 articles.

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