التفاصيل البيبلوغرافية
العنوان: |
Analysis of mutations in the tudor domain of the survival motor neuron protein SMN. |
المؤلفون: |
Mohaghegh, Payam, Rodrigues, Nanda R, Owen, Nicholas, Ponting, Christopher P, Le, Thanh T, Burghes, Arthur HM, Davies, Kay E |
المصدر: |
European Journal of Human Genetics; Jul99, Vol. 7 Issue 5, p519, 7p |
مصطلحات موضوعية: |
GENETIC mutation, PROTEINS, MOTOR neurons |
مستخلص: |
Autosomal recessive childhood onset spinal muscular atrophy (SMA) is a leading cause of infant mortality caused by mutations in the survival motor neuron (SMN) gene. The SMN protein is involved in RNA processing and is localised in structures called GEMs in the nucleus. Nothing is yet understood about why mutations in SMN gene result in the selective motor neuron loss observed in patients. The SMN protein domains conserved across several species may indicate functionally significant regions. Exon 3 of SMN contains homology to a tudor domain, where a Type I SMA patient has been reported to harbour a missense mutation. We have generated missense mutants in this region of SMN and have tested their ability to form GEMs when transfected into HeLa cells. Our results show such mutant SMN proteins still localise to GEMs. Furthermore, exon 7 deleted SMN protein appears to exert a dominant negative effect on localisation of endogenous SMN protein. However, exon 3 mutant protein and exon 5 deleted protein exert no such effect. [ABSTRACT FROM AUTHOR] |
|
Copyright of European Journal of Human Genetics is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) |
قاعدة البيانات: |
Complementary Index |