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Normal Function
The TSPYL1 gene provides instructions for making a protein called TSPY-like 1. This protein is active in the brain, testes (in males), and other tissues, although its function is not well understood. TSPY-like 1 contains a region called a nucleosome assembly protein (NAP) domain, which is found in other proteins that help control cell division, copy (replicate) DNA, and regulate the activity of various genes. It is unknown whether TSPY-like 1 also has these functions.
Based on its role in a condition called sudden infant death with dysgenesis of the testes syndrome, researchers propose that TSPY-like 1 is involved in the development of the male reproductive system and the brain, including the brainstem. The brainstem is a part of the brain that is connected to the spinal cord. It regulates many basic body functions, including heart rate, breathing, eating, and sleeping. It also relays information about movement and the senses between the brain and the rest of the body.
Health Conditions Related to Genetic Changes
Sudden infant death with dysgenesis of the testes syndrome
A single mutation in the TSPYL1 gene has caused all identified cases of sudden infant death with dysgenesis of the testes syndrome (SIDDT), a condition that has been reported in an Old Order Amish community in Pennsylvania. The condition is fatal in the first year of life; its major features include abnormalities of the reproductive system in males, breathing problems, a slow or uneven heart rate, and feeding difficulties.
The mutation that causes SIDDT inserts a single DNA building block (nucleotide) into the TSPYL1 gene. This mutation is written as 457_458insG. The extra nucleotide alters how the gene's instructions are used to make TSPY-like 1, which results in the production of an abnormally short, nonfunctional protein. A loss of TSPY-like 1 function appears to disrupt the normal development of the male reproductive system and the brain, including the brainstem. Abnormalities of brainstem function, particularly involving breathing and heart rate, are likely the cause of sudden death in affected infants.
Research findings suggest that mutations in the TSPYL1 gene are not associated with sudden infant death syndrome (SIDS) in the general population. SIDS is a major cause of death in children younger than 1 year.
More About This Health ConditionOther disorders
Changes in the TSPYL1 gene have been studied as a potential cause of infertility, which is the inability to have biological children. Variations in the gene have been identified in several infertile men and in at least one person who was genetically male (with one X chromosome and one Y chromosome in each cell) but had external genitalia that appeared female. However, it is unclear whether the TSPYL1 gene variations were related to these abnormalities or occurred by coincidence. Changes in the TSPYL1 gene are not thought to be a major cause of infertility.
Other Names for This Gene
- testis-specific Y-encoded-like protein 1
- TSPY-like 1
- TSPY-like protein 1
- TSPYL
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Hering R, Frade-Martinez R, Bajanowski T, Poets CF, Tschentscher F, Riess O. Genetic investigation of the TSPYL1 gene in sudden infant death syndrome. Genet Med. 2006 Jan;8(1):55-8. doi: 10.1097/01.gim.0000195898.15290.03. Citation on PubMed
- Javaher P, Stuhrmann M, Wilke C, Frenzel E, Manukjan G, Grosshenig A, Dechend F, Schwaab E, Schmidtke J, Schubert S. Should TSPYL1 mutation screening be included in routine diagnostics of male idiopathic infertility? Fertil Steril. 2012 Feb;97(2):402-6. doi: 10.1016/j.fertnstert.2011.11.002. Epub 2011 Dec 2. Citation on PubMed
- 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. Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function. Proc Natl Acad Sci U S A. 2004 Aug 10;101(32):11689-94. doi: 10.1073/pnas.0401194101. Epub 2004 Jul 23. Citation on PubMed or Free article on PubMed Central
- Schubert S, Haas C, Bartsch C, Mirshekarnejad M, Kohrs S, Roettinger I, Grosshennig A, Stuhrmann M, Scholz C, Schmidtke J. Variants in TSPYL1 are not associated with sudden infant death syndrome in a cohort of deceased infants from Switzerland. Mol Cell Probes. 2015 Feb;29(1):31-4. doi: 10.1016/j.mcp.2014.10.006. Epub 2014 Nov 4. Citation on PubMed
- Vinci G, Brauner R, Tar A, Rouba H, Sheth J, Sheth F, Ravel C, McElreavey K, Bashamboo A. Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility. Fertil Steril. 2009 Oct;92(4):1347-1350. doi: 10.1016/j.fertnstert.2009.04.009. Epub 2009 May 21. Citation on PubMed
- Vogel T, Dittrich O, Mehraein Y, Dechend F, Schnieders F, Schmidtke J. Murine and human TSPYL genes: novel members of the TSPY-SET-NAP1L1 family. Cytogenet Cell Genet. 1998;81(3-4):265-70. doi: 10.1159/000015042. Citation on PubMed
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