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. Hayden; Joh E. Ikeda

doi:10.1038/ng1001-166

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 Journal › Article › peer-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 language	English
Pages (from-to)	166-173
Number of pages	8
Journal	Nature Genetics
Volume	29
DOIs	https://doi.org/10.1038/ng1001-166
Publication status	Published - 1 Oct 2001

Keywords

Human genetics
Human gene
Human chromosome

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Hadano, S., Hand, C. K., Osuga, H., Yanagisawa, Y., Otomo, A., Devon, R. S., Miyamoto, N., Showguchi-Miyata, J., Okada, Y., Singaraja, R., Figlewicz, D. A., Kwiatkowski, T., Hosler, B. A., Sagie, T., Skaug, J., Nasir, J., Brown, R. H., Scherer, S. W., Rouleau, G. A., ... Ikeda, J. E. (2001). A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nature Genetics, 29, 166-173. https://doi.org/10.1038/ng1001-166

@article{ef6b13eb017a471abc35c0672db28b77,

title = "A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2",

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.",

keywords = "Human genetics, Human gene, Human chromosome",

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

year = "2001",

month = oct,

day = "1",

doi = "10.1038/ng1001-166",

language = "English",

volume = "29",

pages = "166--173",

journal = "Nature Genetics",

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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 2001, 'A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2', Nature Genetics, vol. 29, pp. 166-173. https://doi.org/10.1038/ng1001-166

TY - JOUR

T1 - A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

AU - Hadano, Shinji

AU - Hand, Collette K.

AU - Osuga, Hitoshi

AU - Yanagisawa, Yoshiko

AU - Otomo, Asako

AU - Devon, Rebecca S.

AU - Miyamoto, Natsuki

AU - Showguchi-Miyata, Junko

AU - Okada, Yoshinori

AU - Singaraja, Roshni

AU - Figlewicz, Denise A.

AU - Kwiatkowski, Thomas

AU - Hosler, Betsy A.

AU - Sagie, Tally

AU - Skaug, Jennifer

AU - Nasir, Jamal

AU - Brown, Robert H.

AU - Scherer, Stephen W.

AU - Rouleau, Guy A.

AU - Hayden, Michael R.

AU - Ikeda, Joh E.

PY - 2001/10/1

Y1 - 2001/10/1

N2 - 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.

AB - 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.

KW - Human genetics

KW - Human gene

KW - Human chromosome

UR - http://www.mendeley.com/research/gene-encoding-putative-gtpase-regulator-mutated-familial-amyotrophic-lateral-sclerosis-2

U2 - 10.1038/ng1001-166

DO - 10.1038/ng1001-166

M3 - Article

C2 - 11586298

SN - 1546-1718

VL - 29

SP - 166

EP - 173

JO - Nature Genetics

JF - Nature Genetics

ER -

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

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