Testis expressed 15

Last updated
TEX15
Identifiers
Aliases TEX15 , CT42, testis expressed 15, testis expressed 15, meiosis and synapsis associated, SPGF25
External IDs OMIM: 605795 MGI: 1934816 HomoloGene: 12837 GeneCards: TEX15
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001350162

NM_031374

RefSeq (protein)

NP_001337091

NP_113551

Location (UCSC) Chr 8: 30.83 – 30.91 Mb Chr 8: 33.52 – 33.59 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Testis expressed 15 is a protein that in humans is encoded by the TEX15 gene. [5]

Contents

The TEX15 gene displays testis-specific expression, maps to chromosome 8, contains four exons and encodes a 2789-amino acid protein. [6] The TEX15 gene encodes a DNA damage response factor important in meiosis.

Animal studies

In mice, disruption of an ortholog of the TEX15 gene caused a drastic reduction in testis size and meiotic arrest in males. [7] TEX15, in mice, is required for chromosome synapsis, meiotic recombination and DNA double-strand break repair. [7] Furthermore, TEX15 regulates the loading of recombination proteins (RAD51 and DMC1) onto sites of DNA double-strand breaks, and its absence causes a failure of meiotic recombination.

Clinical significance

A mutation in the TEX15 gene was found to be associated with male infertility and meiotic maturation arrest. [6]

Truncation variants of TEX15 are also potential breast cancer risk factors. [8]

Related Research Articles

Meiosis Type of cell division in sexually-reproducing organisms used to produce gametes

Meiosis is a special type of cell division of germ cells in sexually-reproducing organisms used to produce the gametes, such as sperm or egg cells. It involves two rounds of division that ultimately result in four cells with only one copy of each chromosome (haploid). Additionally, prior to the division, genetic material from the paternal and maternal copies of each chromosome is crossed over, creating new combinations of code on each chromosome. Later on, during fertilisation, the haploid cells produced by meiosis from a male and female will fuse to create a cell with two copies of each chromosome again, the zygote.

Homologous chromosome Set of one maternal and one paternal chromosome that pair up with each other inside a cell during meiosis

A couple of homologous chromosomes, or homologs, are a set of one maternal and one paternal chromosome that pair up with each other inside a cell during fertilization. Homologs have the same genes in the same loci where they provide points along each chromosome which enable a pair of chromosomes to align correctly with each other before separating during meiosis. This is the basis for Mendelian inheritance which characterizes inheritance patterns of genetic material from an organism to its offspring parent developmental cell at the given time and area.

Spermatocyte Sperm precursor cell that undergoes meiosis

Spermatocytes are a type of male gametocyte in animals. They derive from immature germ cells called spermatogonia. They are found in the testis, in a structure known as the seminiferous tubules. There are two types of spermatocytes, primary and secondary spermatocytes. Primary and secondary spermatocytes are formed through the process of spermatocytogenesis.

Synaptonemal complex Protein structure

The synaptonemal complex (SC) is a protein structure that forms between homologous chromosomes during meiosis and is thought to mediate synapsis and recombination during meiosis I in eukaryotes. It is currently thought that the SC functions primarily as a scaffold to allow interacting chromatids to complete their crossover activities.

Synapsis Biological phenomenon in meiosis

Synapsis is the pairing of two chromosomes that occurs during meiosis. It allows matching-up of homologous pairs prior to their segregation, and possible chromosomal crossover between them. Synapsis takes place during prophase I of meiosis. When homologous chromosomes synapse, their ends are first attached to the nuclear envelope. These end-membrane complexes then migrate, assisted by the extranuclear cytoskeleton, until matching ends have been paired. Then the intervening regions of the chromosome are brought together, and may be connected by a protein-RNA complex called the synaptonemal complex. Autosomes undergo synapsis during meiosis, and are held together by a protein complex along the whole length of the chromosomes called the synaptonemal complex. Sex chromosomes also undergo synapsis; however, the synaptonemal protein complex that holds the homologous chromosomes together is only present at one end of each sex chromosome.

Spo11

Spo11 is a protein that in humans is encoded by the SPO11 gene. Spo11, in a complex with mTopVIB, creates double strand breaks to initiate meiotic recombination. Its active site contains a tyrosine which ligates and dissociates with DNA to promote break formation. One Spo11 protein is involved per strand of DNA, thus two Spo11 proteins are involved in each double stranded break event.

Chromosome segregation is the process in eukaryotes by which two sister chromatids formed as a consequence of DNA replication, or paired homologous chromosomes, separate from each other and migrate to opposite poles of the nucleus. This segregation process occurs during both mitosis and meiosis. Chromosome segregation also occurs in prokaryotes. However, in contrast to eukaryotic chromosome segregation, replication and segregation are not temporally separated. Instead segregation occurs progressively following replication.

Exonuclease 1

Exonuclease 1 is an enzyme that in humans is encoded by the EXO1 gene.

MSH5

MutS protein homolog 5 is a protein that in humans is encoded by the MSH5 gene.

DMC1 (gene)

Meiotic recombination protein DMC1/LIM15 homolog is a protein that in humans is encoded by the DMC1 gene.

MSH4

MutS protein homolog 4 is a protein that in humans is encoded by the MSH4 gene.

MLH3

DNA mismatch repair protein Mlh3 is a protein that in humans is encoded by the MLH3 gene.

SYCP3

Synaptonemal complex protein 3 is a protein that in humans is encoded by the SYCP3 gene. It is a component of the synaptonemal complex formed between homologous chromosomes during the prophase of meiosis.

RAD54B

DNA repair and recombination protein RAD54B is a protein that in humans is encoded by the RAD54B gene.

Structural maintenance of chromosomes protein 5 is a protein encoded by the SMC5 gene in human.

REC8

Meiotic recombination protein REC8 homolog is a protein that in humans is encoded by the REC8 gene.

HORMAD1

HORMA domain-containing protein 1 (HORMAD1) also known as cancer/testis antigen 46 (CT46) is a protein that in humans is encoded by the HORMAD1 gene.

MCM8

DNA replication licensing factor MCM8 is a protein that in humans is encoded by the MCM8 gene.

Meiotic recombination checkpoint

The meiotic recombination checkpoint monitors meiotic recombination during meiosis, and blocks the entry into metaphase I if recombination is not efficiently processed.

PRDM9

PR domain zinc finger protein 9 is a protein that in humans is encoded by the PRDM9 gene. PRDM9 is responsible for positioning recombination hotspots during meiosis by binding a DNA sequence motif encoded in its zinc finger domain. PRDM9 is the only speciation gene found so far in mammals, and is one of the fastest evolving genes in the genome.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000133863 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000009628 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: Testis expressed 15".
  6. 1 2 Okutman O, Muller J, Baert Y, Serdarogullari M, Gultomruk M, Piton A, Rombaut C, Benkhalifa M, Teletin M, Skory V, Bakircioglu E, Goossens E, Bahceci M, Viville S (October 2015). "Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family". Human Molecular Genetics. 24 (19): 5581–8. doi: 10.1093/hmg/ddv290 . PMID   26199321.
  7. 1 2 Yang F, Eckardt S, Leu NA, McLaughlin KJ, Wang PJ (February 2008). "Mouse TEX15 is essential for DNA double-strand break repair and chromosomal synapsis during male meiosis". The Journal of Cell Biology. 180 (4): 673–9. doi:10.1083/jcb.200709057. PMC   2265566 . PMID   18283110.
  8. Mantere T, Tervasmäki A, Nurmi A, Rapakko K, Kauppila S, Tang J, Schleutker J, Kallioniemi A, Hartikainen JM, Mannermaa A, Nieminen P, Hanhisalo R, Lehto S, Suvanto M, Grip M, Jukkola-Vuorinen A, Tengström M, Auvinen P, Kvist A, Borg Å, Blomqvist C, Aittomäki K, Greenberg RA, Winqvist R, Nevanlinna H, Pylkäs K (April 2017). "Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility". Scientific Reports. 7 (1): 681. Bibcode:2017NatSR...7..681M. doi:10.1038/s41598-017-00766-9. PMC   5429682 . PMID   28386063.

Further reading