{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,30]],"date-time":"2026-03-30T10:04:42Z","timestamp":1774865082489,"version":"3.50.1"},"reference-count":44,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2021,10,12]],"date-time":"2021-10-12T00:00:00Z","timestamp":1633996800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000780","name":"European Commission","doi-asserted-by":"publisher","award":["825033"],"award-info":[{"award-number":["825033"]}],"id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Autism spectrum disorders (ASD) are a group of complex neurodevelopmental disorders, characterized by a deficit in social interaction and communication. Many genetic variants are associated with ASD, including duplication of 7q11.23 encompassing 26\u201328 genes. Symmetrically, the hemizygous deletion of 7q11.23 causes Williams\u2013Beuren syndrome (WBS), a multisystem disorder characterized by \u201chyper-sociability\u201d and communication skills. Interestingly, deletion of four non-exonic mobile elements (MEs) in the \u201ccanine WBS locus\u201d were associated with the behavioral divergence between the wolf and the dog and dog sociability and domestication. We hypothesized that indel of these MEs could be involved in ASD, associated with its different phenotypes and useful as biomarkers for patient stratification and therapeutic design. Since these MEs are non-exonic they have never been discovered before. We searched the corresponding MEs and loci in humans by comparative genomics. Interestingly, they mapped on different but ASD related genes. The loci in individuals with phenotypically different autism and neurotypical controls were amplified by PCR. A sub-set of each amplicon was sequenced by Sanger. No variant resulted associated with ASD and neither specific phenotypes were found but novel small-scale insertions and SNPs were discovered. Since MEs are hyper-methylated and epigenetically modulate gene expression, further investigation in ASD is necessary.<\/jats:p>","DOI":"10.3390\/genes12101605","type":"journal-article","created":{"date-parts":[[2021,10,13]],"date-time":"2021-10-13T04:51:57Z","timestamp":1634100717000},"page":"1605","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Autism Spectrum Disorders: Analysis of Mobile Elements at 7q11.23 Williams\u2013Beuren Region by Comparative Genomics"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7518-1772","authenticated-orcid":false,"given":"Francesca Anna","family":"Cupaioli","sequence":"first","affiliation":[{"name":"Institute of Biomedical Technologies, Italian National Research Council, Via Fratelli Cervi 93, 20090 Segrate, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiara","family":"Fallerini","sequence":"additional","affiliation":[{"name":"Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy"},{"name":"Medical Genetics, University of Siena, 53100 Siena, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Antonietta","family":"Mencarelli","sequence":"additional","affiliation":[{"name":"Genetica Medica, Azienda Ospedaliero Universitaria Senese, 53100 Siena, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valentina","family":"Perticaroli","sequence":"additional","affiliation":[{"name":"Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy"},{"name":"Medical Genetics, University of Siena, 53100 Siena, Italy"},{"name":"Genetica Medica, Azienda Ospedaliero Universitaria Senese, 53100 Siena, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virginia","family":"Filippini","sequence":"additional","affiliation":[{"name":"Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy"},{"name":"Medical Genetics, University of Siena, 53100 Siena, Italy"},{"name":"Genetica Medica, Azienda Ospedaliero Universitaria Senese, 53100 Siena, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1992-1654","authenticated-orcid":false,"given":"Francesca","family":"Mari","sequence":"additional","affiliation":[{"name":"Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy"},{"name":"Medical Genetics, University of Siena, 53100 Siena, Italy"},{"name":"Genetica Medica, Azienda Ospedaliero Universitaria Senese, 53100 Siena, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0846-9220","authenticated-orcid":false,"given":"Alessandra","family":"Renieri","sequence":"additional","affiliation":[{"name":"Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy"},{"name":"Medical Genetics, University of Siena, 53100 Siena, Italy"},{"name":"Genetica Medica, Azienda Ospedaliero Universitaria Senese, 53100 Siena, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7563-5869","authenticated-orcid":false,"given":"Alessandra","family":"Mezzelani","sequence":"additional","affiliation":[{"name":"Institute of Biomedical Technologies, Italian National Research Council, Via Fratelli Cervi 93, 20090 Segrate, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,10,12]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1038\/ng.3169","article-title":"7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages","volume":"47","author":"Adamo","year":"2015","journal-title":"Nat. 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