| First Author | Gibbons RJ | Year | 1995 |
| Journal | Cell | Volume | 80 |
| Issue | 6 | Pages | 837-45 |
| PubMed ID | 7697714 | Mgi Jnum | J:27705 |
| Mgi Id | MGI:75193 | Doi | 10.1016/0092-8674(95)90287-2 |
| Citation | Gibbons RJ, et al. (1995) Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome). Cell 80(6):837-45 |
| abstractText | The ATR-X syndrome is an X-linked disorder comprising severe psychomotor retardation, characteristic facial features, genital abnormalities, and alpha-thalassemia. We have shown that ATR-X results from diverse mutations of XH2, a member of a subgroup of the helicase superfamily that includes proteins involved in a wide range of cellular functions, including DNA recombination and repair (RAD16, RAD54, and ERCC6) and regulation of transcription (SW12/SNF2, MOT1, and brahma). The complex ATR-X phenotype suggests that XH2, when mutated, down-regulates expression of several genes, including the alpha-globin genes, indicating that it could be a global transcriptional regulator. In addition to its role in the ATR-X syndrome, XH2 may be a good candidate for other forms of X-linked mental retardation mapping to Xq13. |
