Identifying Autism Loci and Genes by Tracing Recent Shared Ancestry

@article{citeulike:2988885, 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 "homozygosity mapping" 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. 10.1126/science.1157657}, author = {Morrow, Eric M. and Yoo, Seung-Yun and Flavell, Steven W. and Kim, Tae-Kyung and Lin, Yingxi and Hill, Robert S. and Mukaddes, Nahit M. and Balkhy, Soher and Gascon, Generoso and Hashmi, Asif and Al-Saad, Samira and Ware, Janice and Joseph, Robert M. and Greenblatt, Rachel and Gleason, Danielle and Ertelt, Julia A. and Apse, Kira A. and Bodell, Adria and Partlow, Jennifer N. and Barry, Brenda and Yao, Hui and Markianos, Kyriacos and Ferland, Russell J. and Greenberg, Michael E. and Walsh, Christopher A. }, citeulike-article-id = {2988885}, doi = {10.1126/science.1157657}, journal = {Science}, keywords = {autism, genetics}, month = {July}, number = {5886}, pages = {218--223}, posted-at = {2008-07-15 04:29:01}, priority = {5}, title = {Identifying Autism Loci and Genes by Tracing Recent Shared Ancestry}, url = {http://dx.doi.org/10.1126/science.1157657}, volume = {321}, year = {2008} }

TY - JOUR ID - citeulike:2988885 L3 - citeulike-article-id:2988885 TI - Identifying Autism Loci and Genes by Tracing Recent Shared Ancestry JF - Science VL - 321 IS - 5886 SP - 218 EP - 223 N2 - 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 "homozygosity mapping" 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. 10.1126/science.1157657 KW - autism KW - genetics AU - Morrow, Eric AU - Yoo, Seung-Yun AU - Flavell, Steven AU - Kim, Tae-Kyung AU - Lin, Yingxi AU - Hill, Robert AU - Mukaddes, Nahit AU - Balkhy, Soher AU - Gascon, Generoso AU - Hashmi, Asif AU - Al-Saad, Samira AU - Ware, Janice AU - Joseph, Robert AU - Greenblatt, Rachel AU - Gleason, Danielle AU - Ertelt, Julia AU - Apse, Kira AU - Bodell, Adria AU - Partlow, Jennifer AU - Barry, Brenda AU - Yao, Hui AU - Markianos, Kyriacos AU - Ferland, Russell AU - Greenberg, Michael AU - Walsh, Christopher PY - 2008/07/11/ UR - http://dx.doi.org/10.1126/science.1157657 ER -