{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T22:35:43Z","timestamp":1791326143461,"version":"4.3.1"},"reference-count":16,"publisher":"National Academy of Sciences","issue":"32","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2004,8,10]]},"abstract":"<jats:p>\n                    We have identified a lethal phenotype characterized by sudden infant death (from cardiac and respiratory arrest) with dysgenesis of the testes in males [Online Mendelian Inheritance in Man (OMIM) accession no. 608800]. Twenty-one affected individuals with this autosomal recessive syndrome were ascertained in nine separate sibships among the Old Order Amish. High-density single-nucleotide polymorphism (SNP) genotyping arrays containing 11,555 single-nucleotide polymorphisms evenly distributed across the human genome were used to map the disease locus. A genome-wide autozygosity scan localized the disease gene to a 3.6-Mb interval on chromosome 6q22.1-q22.31. This interval contained 27 genes, including two testis-specific Y-like genes (\n                    <jats:italic>TSPYL<\/jats:italic>\n                    and\n                    <jats:italic>TSPYL4<\/jats:italic>\n                    ) of unknown function. Sequence analysis of the\n                    <jats:italic>TSPYL<\/jats:italic>\n                    gene in affected individuals identified a homozygous frameshift mutation (457_458insG) at codon 153, resulting in truncation of translation at codon 169. Truncation leads to loss of a peptide domain with strong homology to the nucleosome assembly protein family. GFP-fusion expression constructs were constructed and illustrated loss of nuclear localization of truncated TSPYL, suggesting loss of a nuclear localization patch in addition to loss of the nucleosome assembly domain. These results shed light on the pathogenesis of a disorder of sexual differentiation and brainstem-mediated sudden death, as well as give insight into a mechanism of transcriptional regulation.\n                  <\/jats:p>","DOI":"10.1073\/pnas.0401194101","type":"journal-article","created":{"date-parts":[[2004,7,23]],"date-time":"2004-07-23T21:38:06Z","timestamp":1090618686000},"page":"11689-11694","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":123,"title":["Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of\n                    <i>TSPYL<\/i>\n                    loss of function"],"prefix":"10.1073","volume":"101","author":[{"given":"Erik G.","family":"Puffenberger","sequence":"first","affiliation":[{"name":"Clinic for Special Children, Strasburg, PA 17579; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ 85004; Silicon Genetics, Redwood City, CA 94063; Department of Neurodevelopmental Genetics, Barrow Neurological Institute, Phoenix, AZ 85012; and Arizona BioDesign Institute and Harrington Department of Bioengineering, Arizona State University, Tempe, AZ 85248"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diane","family":"Hu-Lince","sequence":"additional","affiliation":[{"name":"Clinic for Special Children, Strasburg, PA 17579; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ 85004; Silicon Genetics, Redwood City, CA 94063; Department of Neurodevelopmental Genetics, Barrow Neurological Institute, Phoenix, AZ 85012; and Arizona BioDesign Institute and Harrington Department of Bioengineering, Arizona State University, Tempe, AZ 85248"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer M.","family":"Parod","sequence":"additional","affiliation":[{"name":"Clinic for Special Children, Strasburg, PA 17579; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ 85004; Silicon Genetics, Redwood City, CA 94063; Department of Neurodevelopmental Genetics, Barrow Neurological Institute, Phoenix, AZ 85012; and Arizona BioDesign Institute and Harrington Department of Bioengineering, Arizona State University, Tempe, AZ 85248"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David W.","family":"Craig","sequence":"additional","affiliation":[{"name":"Clinic for Special Children, Strasburg, PA 17579; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ 85004; Silicon Genetics, Redwood City, CA 94063; Department of Neurodevelopmental Genetics, Barrow Neurological Institute, Phoenix, AZ 85012; and Arizona BioDesign Institute and Harrington Department of Bioengineering, Arizona State University, Tempe, AZ 85248"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seth E.","family":"Dobrin","sequence":"additional","affiliation":[{"name":"Clinic for Special Children, Strasburg, PA 17579; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ 85004; Silicon Genetics, Redwood City, CA 94063; Department of Neurodevelopmental Genetics, Barrow Neurological Institute, Phoenix, AZ 85012; and Arizona BioDesign Institute and Harrington Department of Bioengineering, Arizona State University, Tempe, AZ 85248"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew R.","family":"Conway","sequence":"additional","affiliation":[{"name":"Clinic for Special Children, Strasburg, PA 17579; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ 85004; Silicon Genetics, Redwood City, CA 94063; Department of Neurodevelopmental Genetics, Barrow Neurological Institute, Phoenix, AZ 85012; and Arizona BioDesign Institute and Harrington Department of Bioengineering, Arizona State University, Tempe, AZ 85248"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth A.","family":"Donarum","sequence":"additional","affiliation":[{"name":"Clinic for Special Children, Strasburg, PA 17579; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ 85004; Silicon Genetics, Redwood City, CA 94063; Department of Neurodevelopmental Genetics, Barrow Neurological Institute, Phoenix, AZ 85012; and Arizona BioDesign Institute and Harrington Department of Bioengineering, Arizona State University, Tempe, AZ 85248"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin A.","family":"Strauss","sequence":"additional","affiliation":[{"name":"Clinic for Special Children, Strasburg, PA 17579; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ 85004; Silicon Genetics, Redwood City, CA 94063; Department of Neurodevelopmental Genetics, Barrow Neurological Institute, Phoenix, AZ 85012; and Arizona BioDesign Institute and Harrington Department of Bioengineering, Arizona State University, Tempe, AZ 85248"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Travis","family":"Dunckley","sequence":"additional","affiliation":[{"name":"Clinic for Special Children, Strasburg, PA 17579; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ 85004; Silicon Genetics, Redwood City, CA 94063; Department of Neurodevelopmental Genetics, Barrow Neurological Institute, Phoenix, AZ 85012; and Arizona BioDesign Institute and Harrington Department of Bioengineering, Arizona State University, Tempe, AZ 85248"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javier F.","family":"Cardenas","sequence":"additional","affiliation":[{"name":"Clinic for Special Children, Strasburg, PA 17579; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ 85004; Silicon Genetics, Redwood City, CA 94063; Department of Neurodevelopmental Genetics, Barrow Neurological Institute, Phoenix, AZ 85012; and Arizona BioDesign Institute and Harrington Department of Bioengineering, Arizona State University, Tempe, AZ 85248"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kara R.","family":"Melmed","sequence":"additional","affiliation":[{"name":"Clinic for Special Children, Strasburg, PA 17579; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ 85004; Silicon Genetics, Redwood City, CA 94063; Department of Neurodevelopmental Genetics, Barrow Neurological Institute, Phoenix, AZ 85012; and Arizona BioDesign Institute and Harrington Department of Bioengineering, Arizona State University, Tempe, AZ 85248"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Courtney A.","family":"Wright","sequence":"additional","affiliation":[{"name":"Clinic for Special Children, Strasburg, PA 17579; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ 85004; Silicon Genetics, Redwood City, CA 94063; Department of Neurodevelopmental Genetics, Barrow Neurological Institute, Phoenix, AZ 85012; and Arizona BioDesign Institute and Harrington Department of Bioengineering, Arizona State University, Tempe, AZ 85248"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Winnie","family":"Liang","sequence":"additional","affiliation":[{"name":"Clinic for Special Children, Strasburg, PA 17579; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ 85004; Silicon Genetics, Redwood City, CA 94063; Department of Neurodevelopmental Genetics, Barrow Neurological Institute, Phoenix, AZ 85012; and Arizona BioDesign Institute and Harrington Department of Bioengineering, Arizona State University, Tempe, AZ 85248"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phillip","family":"Stafford","sequence":"additional","affiliation":[{"name":"Clinic for Special Children, Strasburg, PA 17579; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ 85004; Silicon Genetics, Redwood City, CA 94063; Department of Neurodevelopmental Genetics, Barrow Neurological Institute, Phoenix, AZ 85012; and Arizona BioDesign Institute and Harrington Department of Bioengineering, Arizona State University, Tempe, AZ 85248"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C. 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