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Gene Review

DMRT2  -  doublesex and mab-3 related transcription...

Homo sapiens

Synonyms: DSXL-2, DSXL2, Doublesex-and mab-3-related transcription factor 2, Doublesex-like 2 protein
 
 
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Disease relevance of DMRT2

 

High impact information on DMRT2

  • 3. We found that point mutations in the coding region of DMRT1 and the DM domain of DMRT2 are not frequent in XY females [1].
  • Multispecies comparison was particularly effective for detecting CNGs, revealing several novel potential regulatory regions within DMRT3 and DMRT2 as well as DMRT1 [2].
  • RT-PCR indicated that platypus DMRT1 and DMRT3 are expressed specifically in the adult testis (and not ovary), but DMRT2 has a wider expression profile, as it does for other mammals [2].
  • We therefore isolated and fully sequenced platypus BAC clones containing DMRT3 and DMRT2 as well as DMRT1 and then generated multispecies alignments and ran prediction programs followed by experimental verification to annotate this gene cluster [2].
  • DMRT1 and DMRT2 map near the 9p telomere, distal of marker D9S1779 [3].
 

Biological context of DMRT2

  • To contribute to a better understanding of the function of this important gene family, we have analyzed DMRT1, DMRT2, and DMRT3 from the genome model organism Fugu rubripes and the medakafish, a complementary model organism for genetics and functional studies [4].
  • Fluorescence in situ hybridization and microsatellite analyses demonstrated that all cases had hemizygosity of the 9p sex-determining region distal to D9S1779, with loss of the candidate sex-determining genes DMRT1 and DMRT2 from the abnormal chromosome 9 [5].
  • Differences in expression pattern exist for DMRT2 mRNA isoforms among the human adult tissues tested, between adult tissues and human embryos, and between DMRT2 and DMRT1 during embryonic development [6].
 

Anatomical context of DMRT2

  • Analysis of the distribution of two proteins predicted by our method, MTJ1 and DMRT2, confirmed their localization to intracellular membrane compartments [7].

References

  1. A region of human chromosome 9p required for testis development contains two genes related to known sexual regulators. Raymond, C.S., Parker, E.D., Kettlewell, J.R., Brown, L.G., Page, D.C., Kusz, K., Jaruzelska, J., Reinberg, Y., Flejter, W.L., Bardwell, V.J., Hirsch, B., Zarkower, D. Hum. Mol. Genet. (1999) [Pubmed]
  2. DMRT gene cluster analysis in the platypus: New insights into genomic organization and regulatory regions. El-Mogharbel, N., Wakefield, M., Deakin, J.E., Tsend-Ayush, E., Gr??tzner, F., Alsop, A., Ezaz, T., Marshall Graves, J.A. Genomics (2007) [Pubmed]
  3. Three patients with 9p deletions including DMRT1 and DMRT2: a girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal development. Ounap, K., Uibo, O., Zordania, R., Kiho, L., Ilus, T., Oiglane-Shlik, E., Bartsch, O. Am. J. Med. Genet. A (2004) [Pubmed]
  4. Genomic organization and expression of the doublesex-related gene cluster in vertebrates and detection of putative regulatory regions for DMRT1. Brunner, B., Hornung, U., Shan, Z., Nanda, I., Kondo, M., Zend-Ajusch, E., Haaf, T., Ropers, H.H., Shima, A., Schmid, M., Kalscheuer, V.M., Schartl, M. Genomics (2001) [Pubmed]
  5. Sex-determining gene(s) on distal 9p: clinical and molecular studies in six cases. Muroya, K., Okuyama, T., Goishi, K., Ogiso, Y., Fukuda, S., Kameyama, J., Sato, H., Suzuki, Y., Terasaki, H., Gomyo, H., Wakui, K., Fukushima, Y., Ogata, T. J. Clin. Endocrinol. Metab. (2000) [Pubmed]
  6. The human doublesex-related gene, DMRT2, is homologous to a gene involved in somitogenesis and encodes a potential bicistronic transcript. Ottolenghi, C., Veitia, R., Barbieri, M., Fellous, M., McElreavey, K. Genomics (2000) [Pubmed]
  7. Computational prediction of membrane-tethered transcription factors. Zupicich, J., Brenner, S.E., Skarnes, W.C. Genome Biol. (2001) [Pubmed]
 
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