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 A Pericak-Vance, Fayçal Hentati, Teepu Siddique

Research output: Contribution to journalArticle

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

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Guanine Nucleotide Exchange Factors
Amyotrophic Lateral Sclerosis
Motor Neurons
Nerve Degeneration
Motor Neuron Disease
Sequence Deletion
GTP Phosphohydrolases
Genes
Proteins
Central Nervous System
Chromosomes
Juvenile Amyotrophic Lateral Sclerosis 2
Primary lateral sclerosis juvenile

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. / Yang, Yi; Hentati, Afif; Deng, Han Xiang; Dabbagh, Omar; Sasaki, Toru; Hirano, Makito; Hung, Wu Yen; Ouahchi, Karim; Yan, Jianhua; Azim, Anser C.; Cole, Natalie; Gascon, Generoso; Yagmour, Ayesha; Ben-Hamida, Mongi; Pericak-Vance, Margaret A; Hentati, Fayçal; Siddique, Teepu.

In: Nature Genetics, Vol. 29, No. 2, 22.10.2001, p. 160-165.

Research output: Contribution to journalArticle

Yang, Y, Hentati, A, Deng, HX, Dabbagh, O, Sasaki, T, Hirano, M, Hung, WY, Ouahchi, K, Yan, J, Azim, AC, Cole, N, Gascon, G, Yagmour, A, Ben-Hamida, M, Pericak-Vance, MA, 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, vol. 29, no. 2, pp. 160-165. https://doi.org/10.1038/ng1001-160
Yang, Yi ; Hentati, Afif ; Deng, Han Xiang ; Dabbagh, Omar ; Sasaki, Toru ; Hirano, Makito ; Hung, Wu Yen ; Ouahchi, Karim ; Yan, Jianhua ; Azim, Anser C. ; Cole, Natalie ; Gascon, Generoso ; Yagmour, Ayesha ; Ben-Hamida, Mongi ; Pericak-Vance, Margaret A ; Hentati, Fayçal ; Siddique, Teepu. / The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. In: Nature Genetics. 2001 ; Vol. 29, No. 2. pp. 160-165.
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