A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

Shinji Hadano, Collette K. Hand, Hitoshi Osuga, Yoshiko Yanagisawa, Asako Otomo, Rebecca S. Devon, Natsuki Miyamoto, Junko Showguchi-Miyata, Yoshinori Okada, Roshni Singaraja, Denise A. Figlewicz, Thomas Kwiatkowski, Betsy A. Hosler, Tally Sagie, Jennifer Skaug, Jamal Nasir, Robert H. Brown, Stephen W. Scherer, Guy A. Rouleau, Michael R. HaydenJoh E. Ikeda

    Research output: Contribution to JournalArticlepeer-review

    Abstract

    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.
    Original languageEnglish
    Pages (from-to)166-173
    Number of pages8
    JournalNature Genetics
    Volume29
    DOIs
    Publication statusPublished - 1 Oct 2001

    Keywords

    • Human genetics
    • Human gene
    • Human chromosome

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