RGD Reference Report - Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function. - Rat Genome Database

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Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function.

Authors: Puffenberger, EG  Hu-Lince, D  Parod, JM  Craig, DW  Dobrin, SE  Conway, AR  Donarum, EA  Strauss, KA  Dunckley, T  Cardenas, JF  Melmed, KR  Wright, CA  Liang, W  Stafford, P  Flynn, CR  Morton, DH  Stephan, DA 
Citation: Puffenberger EG, etal., Proc Natl Acad Sci U S A. 2004 Aug 10;101(32):11689-94. Epub 2004 Jul 23.
RGD ID: 1599672
Pubmed: PMID:15273283   (View Abstract at PubMed)
PMCID: PMC511011   (View Article at PubMed Central)
DOI: DOI:10.1073/pnas.0401194101   (Journal Full-text)

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 (TSPYL and TSPYL4) of unknown function. Sequence analysis of the TSPYL 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.




  
Object Symbol
Species
Term
Qualifier
Evidence
With
Notes
Source
Original Reference(s)
TSPYL1Humangonadal dysgenesis  IAGP sudden infant death with dysgenesis of the testes syndrome (SIDDT), OMIM:608800RGD 
Tspyl1Ratgonadal dysgenesis  ISOTSPYL1 (Homo sapiens)sudden infant death with dysgenesis of the testes syndrome (SIDDT), OMIM:608800RGD 
Tspyl1Mousegonadal dysgenesis  ISOTSPYL1 (Homo sapiens)sudden infant death with dysgenesis of the testes syndrome (SIDDT), OMIM:608800RGD 
TSPYL1Humansudden infant death syndrome  IAGP sudden infant death with dysgenesis of the testes syndrome (SIDDT), OMIM:608800RGD 
Tspyl1Ratsudden infant death syndrome  ISOTSPYL1 (Homo sapiens)sudden infant death with dysgenesis of the testes syndrome (SIDDT), OMIM:608800RGD 
Tspyl1Mousesudden infant death syndrome  ISOTSPYL1 (Homo sapiens)sudden infant death with dysgenesis of the testes syndrome (SIDDT), OMIM:608800RGD 


Genes (Rattus norvegicus)
Tspyl1  (TSPY-like 1)

Genes (Mus musculus)
Tspyl1  (testis-specific protein, Y-encoded-like 1)

Genes (Homo sapiens)
TSPYL1  (TSPY like 1)