Evaluation of the Golgi trafficking protein VPS54 (wobbler) as a candidate for ALS.
VPS54 is a component of the Golgi-associated retrograde protein (GARP) complex of vesicle sorting proteins. A missense mutation of Vps54 is responsible for motor neuron disease in the wobbler mouse, but the human gene on chromosome 2p14-15 has not been evaluated as a disease gene. We completely sequenced the 22 coding exons from 96 individuals with sporadic ALS, 96 individuals with familial ALS, and 96 controls. Twenty-one novel SNPs were identified. The non-synonymous variant, T360A, was observed in one patient and 0/910 controls. Several polymorphic non-synonymous SNPs were also observed in patients and controls. These initial data suggest that mutations in VPS54 are not a major cause of ALS.
Meisler
Miriam H
MH
Department of Human Genetics, University of Michigan, Ann Arbor, Michigan48109-0618, USA. meislerm@umich.edu
Russ
Carsten
C
Montgomery
Kate T
KT
Greenway
Matthew
M
Ennis
Sean
S
Hardiman
Orla
O
Figlewicz
Denise A
DA
Quenneville
Nicole R
NR
Conibear
Elizabeth
E
Brown
Robert H
RH
D000328:Adult; D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics* / Q000503:physiopathology; D005091:Exons / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D006056:Golgi Apparatus / Q000502:physiology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D022821:RNA Splice Sites / Q000235:genetics; D033921:Vesicular Transport Proteins / Q000235:genetics* / Q000378:metabolism
D022821:RNA Splice Sites; C486749:VPS54 protein, human; D033921:Vesicular Transport Proteins