The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis

Yi Yang, Afif Hentati, Han Xiang Deng, Omar Dabbagh, Toru Sasaki, Makito Hirano, Wu Yen Hung, Karim Ouahchi, Jianhua Yan, Anser C. Azim, Natalie Cole, Generoso Gascon, Ayesha Yagmour, Mongi Ben-Hamida, Margaret Pericak-Vance, Fayçal Hentati, Teepu Siddique

Research output: Contribution to journalArticle

612 Scopus citations

Abstract

Amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS) are neurodegenerative conditions that affect large motor neurons of the central nervous system. We have identified a familial juvenile PLS (JPLS) locus overlapping the previously identified ALS2 locus on chromosome 2q33. We report two deletion mutations in a new gene that are found both in individuals with ALS2 and those with JPLS, indicating that these conditions have a common genetic origin. The predicted sequence of the protein (alsin) may indicate a mechanism for motor-neuron degeneration, as it may include several cell-signaling motifs with known functions, including three associated with guanine-nucleotide exchange factors for GTPases (GEFs).

Original languageEnglish (US)
Pages (from-to)160-165
Number of pages6
JournalNature genetics
Volume29
Issue number2
DOIs
StatePublished - Oct 22 2001
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

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    Yang, Y., Hentati, A., Deng, H. X., Dabbagh, O., Sasaki, T., Hirano, M., Hung, W. Y., Ouahchi, K., Yan, J., Azim, A. C., Cole, N., Gascon, G., Yagmour, A., Ben-Hamida, M., Pericak-Vance, M., Hentati, F., & Siddique, T. (2001). The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nature genetics, 29(2), 160-165. https://doi.org/10.1038/ng1001-160