Structure and alternative splicing of the presenilin-2 gene

Guy Prihar; Rebecca A. Fuldner; Jordi Perez-Tur; Sarah Lincoln; Karen Duff; Richard Crook; John Hardy; Cheryl A. Philips; Craig Venter; Christopher Talbot; Robert F. Clark; Alison Goate; Jinhe Li; Huntington Potter; Eric Karran; Gareth W. Roberts; Michael Hutton; Mark D. Adams

doi:10.1097/00001756-199607080-00031

Structure and alternative splicing of the presenilin-2 gene

Guy Prihar, Rebecca A. Fuldner, Jordi Perez-Tur, Sarah Lincoln, Karen Duff, Richard Crook, John Hardy, Cheryl A. Philips, Craig Venter, Christopher Talbot, Robert F. Clark, Alison Goate, Jinhe Li, Huntington Potter, Eric Karran, Gareth W. Roberts, Michael Hutton, Mark D. Adams

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

45 Scopus citations

Abstract

Missense mutations in the presenilin-1 (PS-1) and presenilin-2 (PS-2) genes have been shown to be causes of autosomal dominant Alzheimer's disease (the AD3 and AD4 loci, respectively). Alternative splicing has previously been reported in the PS-1 gene. In this study, elucidation of intron/exon boundary sequences revealed that PS-2 is encoded by 10 coding exons. In addition, PS-2 cDNA cloning and RT-PCR using RNA from a variety of normal tissues revealed the presence of alternatively spliced products. These products included species with in frame omissions of exon 8 and simultaneous omissions of exons 3 and 4.

Original language	English
Pages (from-to)	1680-1684
Number of pages	5
Journal	NeuroReport
Volume	7
Issue number	10
DOIs	https://doi.org/10.1097/00001756-199607080-00031
State	Published - 1996
Externally published	Yes

Keywords

Alternative splicing
Alzheimer's disease
Exon
Intron
Presenilin

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10.1097/00001756-199607080-00031

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Prihar, G., Fuldner, R. A., Perez-Tur, J., Lincoln, S., Duff, K., Crook, R., Hardy, J., Philips, C. A., Venter, C., Talbot, C., Clark, R. F., Goate, A., Li, J., Potter, H., Karran, E., Roberts, G. W., Hutton, M., & Adams, M. D. (1996). Structure and alternative splicing of the presenilin-2 gene. NeuroReport, 7(10), 1680-1684. https://doi.org/10.1097/00001756-199607080-00031

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title = "Structure and alternative splicing of the presenilin-2 gene",

abstract = "Missense mutations in the presenilin-1 (PS-1) and presenilin-2 (PS-2) genes have been shown to be causes of autosomal dominant Alzheimer's disease (the AD3 and AD4 loci, respectively). Alternative splicing has previously been reported in the PS-1 gene. In this study, elucidation of intron/exon boundary sequences revealed that PS-2 is encoded by 10 coding exons. In addition, PS-2 cDNA cloning and RT-PCR using RNA from a variety of normal tissues revealed the presence of alternatively spliced products. These products included species with in frame omissions of exon 8 and simultaneous omissions of exons 3 and 4.",

keywords = "Alternative splicing, Alzheimer's disease, Exon, Intron, Presenilin",

author = "Guy Prihar and Fuldner, \{Rebecca A.\} and Jordi Perez-Tur and Sarah Lincoln and Karen Duff and Richard Crook and John Hardy and Philips, \{Cheryl A.\} and Craig Venter and Christopher Talbot and Clark, \{Robert F.\} and Alison Goate and Jinhe Li and Huntington Potter and Eric Karran and Roberts, \{Gareth W.\} and Michael Hutton and Adams, \{Mark D.\}",

year = "1996",

doi = "10.1097/00001756-199607080-00031",

language = "English",

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pages = "1680--1684",

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T1 - Structure and alternative splicing of the presenilin-2 gene

AU - Prihar, Guy

AU - Fuldner, Rebecca A.

AU - Perez-Tur, Jordi

AU - Lincoln, Sarah

AU - Duff, Karen

AU - Crook, Richard

AU - Hardy, John

AU - Philips, Cheryl A.

AU - Venter, Craig

AU - Talbot, Christopher

AU - Clark, Robert F.

AU - Goate, Alison

AU - Li, Jinhe

AU - Potter, Huntington

AU - Karran, Eric

AU - Roberts, Gareth W.

AU - Hutton, Michael

AU - Adams, Mark D.

PY - 1996

Y1 - 1996

N2 - Missense mutations in the presenilin-1 (PS-1) and presenilin-2 (PS-2) genes have been shown to be causes of autosomal dominant Alzheimer's disease (the AD3 and AD4 loci, respectively). Alternative splicing has previously been reported in the PS-1 gene. In this study, elucidation of intron/exon boundary sequences revealed that PS-2 is encoded by 10 coding exons. In addition, PS-2 cDNA cloning and RT-PCR using RNA from a variety of normal tissues revealed the presence of alternatively spliced products. These products included species with in frame omissions of exon 8 and simultaneous omissions of exons 3 and 4.

AB - Missense mutations in the presenilin-1 (PS-1) and presenilin-2 (PS-2) genes have been shown to be causes of autosomal dominant Alzheimer's disease (the AD3 and AD4 loci, respectively). Alternative splicing has previously been reported in the PS-1 gene. In this study, elucidation of intron/exon boundary sequences revealed that PS-2 is encoded by 10 coding exons. In addition, PS-2 cDNA cloning and RT-PCR using RNA from a variety of normal tissues revealed the presence of alternatively spliced products. These products included species with in frame omissions of exon 8 and simultaneous omissions of exons 3 and 4.

KW - Alternative splicing

KW - Alzheimer's disease

KW - Exon

KW - Intron

KW - Presenilin

UR - https://www.scopus.com/pages/publications/10144264560

U2 - 10.1097/00001756-199607080-00031

DO - 10.1097/00001756-199607080-00031

M3 - Article

C2 - 8904781

AN - SCOPUS:10144264560

SN - 0959-4965

VL - 7

SP - 1680

EP - 1684

JO - NeuroReport

JF - NeuroReport

IS - 10

ER -

Structure and alternative splicing of the presenilin-2 gene

Abstract

Keywords

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