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A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2 总被引:24,自引:0,他引:24
Hadano S Hand CK Osuga H Yanagisawa Y Otomo A Devon RS Miyamoto N Showguchi-Miyata J Okada Y Singaraja R Figlewicz DA Kwiatkowski T Hosler BA Sagie T Skaug J Nasir J Brown RH Scherer SW Rouleau GA Hayden MR Ikeda JE 《Nature genetics》2001,29(2):166-173
Amyotrophic lateral sclerosis 2 (ALS2) is an autosomal recessive form of juvenile ALS and has been mapped to human chromosome 2q33. Here we report the identification of two independent deletion mutations linked to ALS2 in the coding exons of the new gene ALS2. These deletion mutations result in frameshifts that generate premature stop codons. ALS2 is expressed in various tissues and cells, including neurons throughout the brain and spinal cord, and encodes a protein containing multiple domains that have homology to RanGEF as well as RhoGEF. Deletion mutations are predicted to cause a loss of protein function, providing strong evidence that ALS2 is the causative gene underlying this form of ALS. 相似文献