| Autor: |
Cantagrel, V., Lossi, A.-M., Boulanger, S., Depetris, D., Mattei, M.-G., Gecz, J., Schwartz, C. E., Van Maldergem, L., Villard, L. |
| Předmět: |
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| Zdroj: |
Journal of Medical Genetics; Oct2004, Vol. 41 Issue 10, p736-742, 7p, 3 Black and White Photographs, 2 Diagrams, 3 Graphs |
| Abstrakt: |
Background: Mental retardation (MR) affects 2-3% of the human population and some of these cases are genetically determined. Although several genes responsible for MR have been identified, many cases have still not been explained. Methods: We have identified a pericentric inversion of the X chromosome inv(X)(p22.3;ql 3.2) segregating in a family where two male carriers have severe MR while female carriers are not affected. Results: The molecular characterisation of this inversion led us to identify Iwo new genes which are disrupted by the breakpoints: KIAA2022 in Xql 3.2 and P2RY8 in Xp22.3. These genes were not previously fully characterised in humans. KIAA2022 encodes a protein which lacks significant homology to any other known protein and is highly expressed in the brain. P2RY8 is a member of the purine nucleotide G-protein coupled receptor gene family. It is located in the pseudo-autosomal region of the X chromosome and is not expressed in brain. Conclusions: Because the haploinsufficiency of P2RY8 in carrier mothers does not have a phenolypic consequence, we propose that the severe MR of the affected males in this family is due to the absence of the KIAA2022 gene product. However, screening 20 probands from X linked MR families did not reveal mutations in KIAA2022. Nonetheless, the high expression of this gene in fetal brain and in the adult cerebral cortex could be consistent with a role in brain development and/or cognitive function. [ABSTRACT FROM AUTHOR] |
| Databáze: |
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