Candidate gene for the chromosome 1 familial Alzheimer's disease locus

Ephrat Levy-Lahad; Wilma Wasco; Parvoneh Poorkaj; Donna M. Romano; Junko Oshima; Warren H. Pettingell; Chang En Yu; Paul D. Jondro; Stephen D. Schmidt; Kai Wang; Annette C. Crowley; Ying Hui Fu; Suzanne Y. Guenette; David Galas; Ellen Nemens; Ellen M. Wijsman; Thomas D. Bird; Gerard D. Schellenberg; Rudolph E. Tanzi

doi:10.1126/science.7638622

Candidate gene for the chromosome 1 familial Alzheimer's disease locus

Ephrat Levy-Lahad
, Wilma Wasco
, Parvoneh Poorkaj
, Donna M. Romano
, Junko Oshima
, Warren H. Pettingell
, Chang En Yu
, Paul D. Jondro
, Stephen D. Schmidt
, Kai Wang
, Annette C. Crowley
, Ying Hui Fu
, Suzanne Y. Guenette
, David Galas
, Ellen Nemens
, Ellen M. Wijsman
, Thomas D. Bird
, Gerard D. Schellenberg^*
, Rudolph E. Tanzi

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

2397 Scopus citations

Abstract

A candidate gene for the chromosome 1 Alzheimer's disease (AD) locus was identified (STM2). The predicted amino acid sequence for STM2 is homologous to that of the recently cloned chromosome 14 AD gene (S182). A point mutation in STM2, resulting in the substitution of an isoleucine for an asparagine (N141I), was identified in affected people from Volga German AD kindreds. This N141I mutation occurs at an amino acid residue that is conserved in human S182 and in the mouse S182 homolog. The presence of missense mutations in AD subjects in two highly similar genes strongly supports the hypothesis that mutations in both are pathogenic.

Original language	English
Pages (from-to)	973-977
Number of pages	5
Journal	Science
Volume	269
Issue number	5226
DOIs	https://doi.org/10.1126/science.7638622
State	Published - 1995
Externally published	Yes

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Levy-Lahad, E., Wasco, W., Poorkaj, P., Romano, D. M., Oshima, J., Pettingell, W. H., Yu, C. E., Jondro, P. D., Schmidt, S. D., Wang, K., Crowley, A. C., Fu, Y. H., Guenette, S. Y., Galas, D., Nemens, E., Wijsman, E. M., Bird, T. D., Schellenberg, G. D., & Tanzi, R. E. (1995). Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science, 269(5226), 973-977. https://doi.org/10.1126/science.7638622

@article{2b321e3df62e491aa3dc2e56b5c0e676,

title = "Candidate gene for the chromosome 1 familial Alzheimer's disease locus",

abstract = "A candidate gene for the chromosome 1 Alzheimer's disease (AD) locus was identified (STM2). The predicted amino acid sequence for STM2 is homologous to that of the recently cloned chromosome 14 AD gene (S182). A point mutation in STM2, resulting in the substitution of an isoleucine for an asparagine (N141I), was identified in affected people from Volga German AD kindreds. This N141I mutation occurs at an amino acid residue that is conserved in human S182 and in the mouse S182 homolog. The presence of missense mutations in AD subjects in two highly similar genes strongly supports the hypothesis that mutations in both are pathogenic.",

author = "Ephrat Levy-Lahad and Wilma Wasco and Parvoneh Poorkaj and Romano, \{Donna M.\} and Junko Oshima and Pettingell, \{Warren H.\} and Yu, \{Chang En\} and Jondro, \{Paul D.\} and Schmidt, \{Stephen D.\} and Kai Wang and Crowley, \{Annette C.\} and Fu, \{Ying Hui\} and Guenette, \{Suzanne Y.\} and David Galas and Ellen Nemens and Wijsman, \{Ellen M.\} and Bird, \{Thomas D.\} and Schellenberg, \{Gerard D.\} and Tanzi, \{Rudolph E.\}",

year = "1995",

doi = "10.1126/science.7638622",

language = "אנגלית",

volume = "269",

pages = "973--977",

journal = "Science",

issn = "0036-8075",

publisher = "American Association for the Advancement of Science",

number = "5226",

}

Levy-Lahad, E, Wasco, W, Poorkaj, P, Romano, DM, Oshima, J, Pettingell, WH, Yu, CE, Jondro, PD, Schmidt, SD, Wang, K, Crowley, AC, Fu, YH, Guenette, SY, Galas, D, Nemens, E, Wijsman, EM, Bird, TD, Schellenberg, GD & Tanzi, RE 1995, 'Candidate gene for the chromosome 1 familial Alzheimer's disease locus', Science, vol. 269, no. 5226, pp. 973-977. https://doi.org/10.1126/science.7638622

TY - JOUR

T1 - Candidate gene for the chromosome 1 familial Alzheimer's disease locus

AU - Levy-Lahad, Ephrat

AU - Wasco, Wilma

AU - Poorkaj, Parvoneh

AU - Romano, Donna M.

AU - Oshima, Junko

AU - Pettingell, Warren H.

AU - Yu, Chang En

AU - Jondro, Paul D.

AU - Schmidt, Stephen D.

AU - Wang, Kai

AU - Crowley, Annette C.

AU - Fu, Ying Hui

AU - Guenette, Suzanne Y.

AU - Galas, David

AU - Nemens, Ellen

AU - Wijsman, Ellen M.

AU - Bird, Thomas D.

AU - Schellenberg, Gerard D.

AU - Tanzi, Rudolph E.

PY - 1995

Y1 - 1995

N2 - A candidate gene for the chromosome 1 Alzheimer's disease (AD) locus was identified (STM2). The predicted amino acid sequence for STM2 is homologous to that of the recently cloned chromosome 14 AD gene (S182). A point mutation in STM2, resulting in the substitution of an isoleucine for an asparagine (N141I), was identified in affected people from Volga German AD kindreds. This N141I mutation occurs at an amino acid residue that is conserved in human S182 and in the mouse S182 homolog. The presence of missense mutations in AD subjects in two highly similar genes strongly supports the hypothesis that mutations in both are pathogenic.

AB - A candidate gene for the chromosome 1 Alzheimer's disease (AD) locus was identified (STM2). The predicted amino acid sequence for STM2 is homologous to that of the recently cloned chromosome 14 AD gene (S182). A point mutation in STM2, resulting in the substitution of an isoleucine for an asparagine (N141I), was identified in affected people from Volga German AD kindreds. This N141I mutation occurs at an amino acid residue that is conserved in human S182 and in the mouse S182 homolog. The presence of missense mutations in AD subjects in two highly similar genes strongly supports the hypothesis that mutations in both are pathogenic.

UR - https://www.scopus.com/pages/publications/0029087026

U2 - 10.1126/science.7638622

DO - 10.1126/science.7638622

M3 - ???researchoutput.researchoutputtypes.contributiontojournal.article???

C2 - 7638622

AN - SCOPUS:0029087026

SN - 0036-8075

VL - 269

SP - 973

EP - 977

JO - Science

JF - Science

IS - 5226

ER -

Candidate gene for the chromosome 1 familial Alzheimer's disease locus

Abstract

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