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 language | English |
|---|---|
| Pages (from-to) | 160-165 |
| Number of pages | 6 |
| Journal | Nature Genetics |
| Volume | 29 |
| Issue number | 2 |
| DOIs | |
| State | Published - Oct 22 2001 |
| Externally published | Yes |
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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 journal › Article
}
TY - JOUR
T1 - The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis
AU - Yang, Yi
AU - Hentati, Afif
AU - Deng, Han Xiang
AU - Dabbagh, Omar
AU - Sasaki, Toru
AU - Hirano, Makito
AU - Hung, Wu Yen
AU - Ouahchi, Karim
AU - Yan, Jianhua
AU - Azim, Anser C.
AU - Cole, Natalie
AU - Gascon, Generoso
AU - Yagmour, Ayesha
AU - Ben-Hamida, Mongi
AU - Pericak-Vance, Margaret A
AU - Hentati, Fayçal
AU - Siddique, Teepu
PY - 2001/10/22
Y1 - 2001/10/22
N2 - 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).
AB - 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).
UR - http://www.scopus.com/inward/record.url?scp=0034785509&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0034785509&partnerID=8YFLogxK
U2 - 10.1038/ng1001-160
DO - 10.1038/ng1001-160
M3 - Article
VL - 29
SP - 160
EP - 165
JO - Nature Genetics
JF - Nature Genetics
SN - 1061-4036
IS - 2
ER -