{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,9]],"date-time":"2025-04-09T06:10:35Z","timestamp":1744179035802,"version":"3.37.3"},"reference-count":19,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,6,9]],"date-time":"2017-06-09T00:00:00Z","timestamp":1496966400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001332","name":"Council for Scientific and Industrial Research","doi-asserted-by":"publisher","award":["GenCODE","BSC0123"],"award-info":[{"award-number":["GenCODE","BSC0123"]}],"id":[{"id":"10.13039\/501100001332","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2017,9]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Spinocerebellar ataxia type 7 (SCA7) is a rare neurogenetic disorder caused by highly unstable CAG repeat expansion mutation in coding region of SCA7. We aimed to understand the effect of diverse <jats:italic>ATXN7 cis<\/jats:italic>\u2010element in correlation with CAG expansion mutation of SCA7. We initially performed an analysis to identify the haplotype background of CAG expanded alleles using eight bi\u2010allelic single nucleotide polymorphisms (SNPs) flanking an <jats:italic>ATXN7<\/jats:italic>\u2010CAG expansion in 32 individuals from nine unrelated Indian SCA7 families and 88 healthy controls. Subsequent validation of the findings was performed in 89 <jats:italic>ATXN7<\/jats:italic>\u2010CAG mutation carriers and in 119 unrelated healthy controls of Mexican ancestry. The haplotype analyses showed a shared haplotype background and C allele of SNP rs6798742 (approximately 6\u2009kb from the 3\u2032\u2010end of CAG repeats) is in complete association with expanded, premutation, intermediate, and the majority of large normal (\u226512) CAG allele. The C allele (ancestral\/chimp allele) association was validated in SCA7 subjects and healthy controls from Mexico, suggesting its substantial association with CAG expanded and expansion\u2010prone chromosomes. Analysis of rs6798742 and other neighboring functional SNPs within 6 kb in experimental datasets (Encyclopedia of DNA Elements; ENCODE) shows functional marks that could affect transcription as well as histone methylation. An allelic association of the CAG region to an intronic SNP in two different ethnic and geographical populations suggests a \u2010cis factor\u2010dependent mechanism in <jats:italic>ATXN7<\/jats:italic> CAG\u2010region expansion.<\/jats:p>","DOI":"10.1111\/ahg.12200","type":"journal-article","created":{"date-parts":[[2017,6,9]],"date-time":"2017-06-09T10:36:43Z","timestamp":1497004603000},"page":"197-204","source":"Crossref","is-referenced-by-count":5,"title":["A Complete Association of an intronic SNP rs6798742 with Origin of Spinocerebellar Ataxia Type 7\u2010CAG Expansion Loci in the Indian and Mexican Population"],"prefix":"10.1111","volume":"81","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8278-8396","authenticated-orcid":false,"given":"Mohammed","family":"Faruq","sequence":"first","affiliation":[{"name":"Genomics and Molecular Medicine Council of Scientific and Industrial Research\u2010Institute of Genomics and Integrative Biology (CSIR \u2010IGIB)  Mall Road Delhi India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jonathan J.","family":"Maga\u00f1a","sequence":"additional","affiliation":[{"name":"Laboratory of Genomic Medicine, Department of Genetics National Rehabilitation Institute\u2010LGII (INR\u2010LGII)  Mexico City Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Varun","family":"Suroliya","sequence":"additional","affiliation":[{"name":"Department of Neurology, Neuroscience Centre All India Institute of Medical Sciences  New Delhi India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ankita","family":"Narang","sequence":"additional","affiliation":[{"name":"Genomics and Molecular Medicine Council of Scientific and Industrial Research\u2010Institute of Genomics and Integrative Biology (CSIR \u2010IGIB)  Mall Road Delhi India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadia M.","family":"Murillo\u2010Melo","sequence":"additional","affiliation":[{"name":"Laboratory of Genomic Medicine, Department of Genetics National Rehabilitation Institute\u2010LGII (INR\u2010LGII)  Mexico City Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oscar","family":"Hern\u00e1ndez\u2010Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Laboratory of Genomic Medicine, Department of Genetics National Rehabilitation Institute\u2010LGII (INR\u2010LGII)  Mexico City Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Achal K.","family":"Srivastava","sequence":"additional","affiliation":[{"name":"Department of Neurology, Neuroscience Centre All India Institute of Medical Sciences  New Delhi India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mitali","family":"Mukerji","sequence":"additional","affiliation":[{"name":"Genomics and Molecular Medicine Council of Scientific and Industrial Research\u2010Institute of Genomics and Integrative Biology (CSIR \u2010IGIB)  Mall Road Delhi India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,6,9]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.51.4.1081"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(03)00209-0"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.21.2437"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0997-65"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.2.165"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.2.177"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.4103\/0971-5916.155556"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-013-0387-4"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/302406"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200557"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000257"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg006"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-013-0505-8"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12114"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201108"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-005-0233-0"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gks595"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200392"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1086\/379378"}],"container-title":["Annals 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