miércoles, 21 de enero de 2015

TSPYL1 - TSPY-like 1 - Genetics Home Reference

TSPYL1 - TSPY-like 1 - Genetics Home Reference

Genetics Home Reference: your guide to understanding genetic conditions


What is the official name of the TSPYL1 gene?

The official name of this gene is “TSPY-like 1.”
TSPYL1 is the gene's official symbol. The TSPYL1 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.

What is the normal function of the TSPYL1 gene?

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 (described below), 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.

How are changes in the TSPYL1 gene related to health conditions?

sudden infant death with dysgenesis of the testes syndrome - caused by mutations in the TSPYL1 gene
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 theTSPYL1 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.
other disorders - associated with the TSPYL1 gene
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.

Where is the TSPYL1 gene located?

Cytogenetic Location: 6q22.1
Molecular Location on chromosome 6: base pairs 116,274,858 to 116,280,116
The TSPYL1 gene is located on the long (q) arm of chromosome 6 at position 22.1.
The TSPYL1 gene is located on the long (q) arm of chromosome 6 at position 22.1.
More precisely, the TSPYL1 gene is located from base pair 116,274,858 to base pair 116,280,116 on chromosome 6.

Where can I find additional information about TSPYL1?

You and your healthcare professional may find the following resources about TSPYL1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the TSPYL1 gene or gene products?

  • testis-specific Y-encoded-like protein 1
  • TSPY-like protein 1

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding TSPYL1?

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
References (8 links)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

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