{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,15]],"date-time":"2026-11-15T04:04:28Z","timestamp":1794715468947,"version":"4.9.1"},"reference-count":81,"publisher":"The Endocrine Society","issue":"1","license":[{"start":{"date-parts":[[2023,8,12]],"date-time":"2023-08-12T00:00:00Z","timestamp":1691798400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100001807","name":"Funda\u00e7ao de Amparo a Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["2019\/26780-9"],"award-info":[{"award-number":["2019\/26780-9"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,12,21]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Context<\/jats:title>\n                    <jats:p>Despite high abundance of small indels in human genomes, their precise roles and underlying mechanisms of mutagenesis in Mendelian disorders require further investigation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To profile the distribution, functional implications, and mechanisms of small indels in the androgen receptor (AR) gene in individuals with androgen insensitivity syndrome (AIS).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We conducted a systematic review of previously reported indels within the coding region of the AR gene, including 3 novel indels. Distribution throughout the AR coding region was examined and compared with genomic population data. Additionally, we assessed their impact on the AIS phenotype and investigated potential mechanisms driving their occurrence.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>A total of 82 indels in AIS were included. Notably, all frameshift indels exhibited complete AIS. The distribution of indels across the AR gene showed a predominance in the N-terminal domain, most leading to frameshift mutations. Small deletions accounted for 59.7%. Most indels occurred in nonrepetitive sequences, with 15.8% situated within triplet regions. Gene burden analysis demonstrated significant enrichment of frameshift indels in AIS compared with controls (P &amp;lt; .00001), and deletions were overrepresented in AIS (P &amp;lt; .00001).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Our findings underscore a robust genotype-phenotype relationship regarding small indels in the AR gene in AIS, with a vast majority presenting complete AIS. Triplet regions and homopolymeric runs emerged as prone loci for small indels within the AR. Most were frameshift indels, with polymerase slippage potentially explaining half of AR indel occurrences. Complex frameshift indels exhibited association with palindromic runs. These discoveries advance understanding of the genetic basis of AIS and shed light on potential mechanisms underlying pathogenic small indel events.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1210\/clinem\/dgad470","type":"journal-article","created":{"date-parts":[[2023,8,11]],"date-time":"2023-08-11T16:35:43Z","timestamp":1691771743000},"page":"68-79","source":"Crossref","is-referenced-by-count":3,"title":["Small Indels in the Androgen Receptor Gene: Phenotype Implications and Mechanisms of Mutagenesis"],"prefix":"10.1210","volume":"109","author":[{"given":"Raquel Martinez","family":"Ramos","sequence":"first","affiliation":[{"name":"Developmental Endocrinology Unit, Hormone and Molecular Genetics Laboratory (LIM\/42), Endocrinology Division, Internal Medicine Department, Medical School, University of S\u00e3o Paulo (USP) , S\u00e3o Paulo, SP, 05403-000 ,","place":["Brazil"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reginaldo Jos\u00e9","family":"Petroli","sequence":"additional","affiliation":[{"name":"Faculdade de Medicina da Universidade Federal de Alagoas (UFAL), Programa de P\u00f3s-Gradua\u00e7\u00e3o em Ci\u00eancias M\u00e9dicas\u2014UFAL , Macei\u00f3, AL, 57072-900 ,","place":["Brazil"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nath\u00e1lia Da Roz","family":"D\u2019Alessandre","sequence":"additional","affiliation":[{"name":"Molecular Oncology Center, Hospital S\u00edrio Liban\u00eas , S\u00e3o Paulo, SP, 01308-060 ,","place":["Brazil"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriela Der Agopian","family":"Guardia","sequence":"additional","affiliation":[{"name":"Molecular Oncology Center, Hospital S\u00edrio Liban\u00eas , S\u00e3o Paulo, SP, 01308-060 ,","place":["Brazil"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Caroline de Freitas","family":"Afonso","sequence":"additional","affiliation":[{"name":"Developmental Endocrinology Unit, Hormone and Molecular Genetics Laboratory (LIM\/42), Endocrinology Division, Internal Medicine Department, Medical School, University of S\u00e3o Paulo (USP) , S\u00e3o Paulo, SP, 05403-000 ,","place":["Brazil"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirian Yumie","family":"Nishi","sequence":"additional","affiliation":[{"name":"Developmental Endocrinology Unit, Hormone and Molecular Genetics Laboratory (LIM\/42), Endocrinology Division, Internal Medicine Department, Medical School, University of S\u00e3o Paulo (USP) , S\u00e3o Paulo, SP, 05403-000 ,","place":["Brazil"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sorahia","family":"Domenice","sequence":"additional","affiliation":[{"name":"Developmental Endocrinology Unit, Hormone and Molecular Genetics Laboratory (LIM\/42), Endocrinology Division, Internal Medicine Department, Medical School, University of S\u00e3o Paulo (USP) , S\u00e3o Paulo, SP, 05403-000 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