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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

TSPYL1  -  TSPY-like 1

Homo sapiens

Synonyms: TSPY-like protein 1, TSPYL, Testis-specific Y-encoded-like protein 1
 
 
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Disease relevance of TSPYL1

  • Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function [1].
  • Furthermore, we show that other members of the TSPYL gene family are epigenetically silenced in gliomas and dissect the contribution of individual DNA methyltransferases to the aberrant promoter hypermethylation events [2].
  • Because SIDDT is the result of homozygous TSPYL1 mutations, this heterozygous exchange cannot solely explain the sudden death in this child [3].
 

High impact information on TSPYL1

  • This interval contained 27 genes, including two testis-specific Y-like genes (TSPYL and TSPYL4) of unknown function [1].
  • 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 [1].
  • Specific recruitment of ZFP106 via amino acids 412-781 into TSPYL-positive nucleoplasmic bodies requires a TSPYL domain absent in the mutant protein of patients with testis dysgenesis [4].
  • DENTT contains a conserved 191-residue domain that shows significant identity to, and defines, the TSPY/TSPY-like/SET/NAP-1 superfamily [5].
  • PURPOSE: The study's purpose was to reveal a possible role of TSPYL1 in SIDS [3].
 

Biological context of TSPYL1

  • A human TSPYL gene was localized on chromosome 6 and a murine Tspyl gene was localized on chromosome 10 [6].
  • Both the human and murine Tspyl homologs lack introns over the entire region so far investigated and are thought to have arisen by an ancient retroposition event [6].
  • Retroposition of Tspyl genes is supported by the isolation of a murine Tspyl pseudogene on chromosome 12 which also lacks intronic sequences, and by its observed proximity to an R element, a family of dispersed repetitive DNA [6].
  • BACKGROUND: Sudden infant death syndrome (SIDS) constitutes the most frequent cause of death in the postperinatal period in Germany. Recently, a lethal phenotype characterized by sudden infant death with dysgenesis of the testes syndrome (SIDDT) was identified to be caused by loss of function mutations in the TSPYL1 gene [3].
 

Analytical, diagnostic and therapeutic context of TSPYL1

References

  1. Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function. Puffenberger, E.G., Hu-Lince, D., Parod, J.M., Craig, D.W., Dobrin, S.E., Conway, A.R., Donarum, E.A., Strauss, K.A., Dunckley, T., Cardenas, J.F., Melmed, K.R., Wright, C.A., Liang, W., Stafford, P., Flynn, C.R., Morton, D.H., Stephan, D.A. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  2. Epigenomic profiling reveals novel and frequent targets of aberrant DNA methylation-mediated silencing in malignant glioma. Kim, T.Y., Zhong, S., Fields, C.R., Kim, J.H., Robertson, K.D. Cancer Res. (2006) [Pubmed]
  3. Genetic investigation of the TSPYL1 gene in sudden infant death syndrome. Hering, R., Frade-Martinez, R., Bajanowski, T., Poets, C.F., Tschentscher, F., Riess, O. Genet. Med. (2006) [Pubmed]
  4. Subcellular recruitment by TSG118 and TSPYL implicates a role for zinc finger protein 106 in a novel developmental pathway. Grasberger, H., Bell, G.I. Int. J. Biochem. Cell Biol. (2005) [Pubmed]
  5. Identification of differentially expressed nucleolar TGF-beta1 target (DENTT) in human lung cancer cells that is a new member of the TSPY/SET/NAP-1 superfamily. Ozbun, L.L., You, L., Kiang, S., Angdisen, J., Martinez, A., Jakowlew, S.B. Genomics (2001) [Pubmed]
  6. Murine and human TSPYL genes: novel members of the TSPY-SET-NAP1L1 family. Vogel, T., Dittrich, O., Mehraein, Y., Dechend, F., Schnieders, F., Schmidtke, J. Cytogenet. Cell Genet. (1998) [Pubmed]
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