A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2

被引：194

作者：

Holmes, SE

O'Hearn, E

Rosenblatt, A

Callahan, C

Hwang, HS

Ingersoll-Ashworth, RG

Fleisher, A

Stevanin, G

Brice, A

Potter, NT

Ross, CA

Margolis, RL ^{[1
]}

机构：

[1] Johns Hopkins Univ, Sch Med, Dept Psychiat, Baltimore, MD 21205 USA

[2] Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21205 USA

[3] Johns Hopkins Univ, Sch Med, Dept Neurosci, Baltimore, MD 21205 USA

[4] Johns Hopkins Univ, Sch Med, Inst Med Genet, Baltimore, MD 21205 USA

[5] Hop La Pitie Salpetriere, INSERM U289, Paris, France

[6] Univ Tennessee, Med Ctr, Dept Med Genet, Knoxville, TN USA

[7] Johns Hopkins Univ, Sch Med, Program Cellular & Mol Med, Baltimore, MD 21287 USA

来源：

NATURE GENETICS | 2001年 / 29卷 / 04期

关键词：

D O I：

10.1038/ng760

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We recently described a disorder termed Huntington disease-like 2 (HDL2) that completely segregates with an unidentified CAG/CTG expansion in a large pedigree (W)(1). We now report the cloning of this expansion and its localization to a variably spliced exon of JPH3 (encoding junctophilin-3), a gene involved in the formation of junctional membrane structures.

引用

页码：377 / 378

页数：2

共 10 条

[1]

ALTSCHUL SF, 1990, J MOL BIOL, V215, P403, DOI 10.1006/jmbi.1990.9999

[2] Prediction of complete gene structures in human genomic DNA [J].

Burge, C ;

Karlin, S .

JOURNAL OF MOLECULAR BIOLOGY, 1997, 268 (01) :78-94

[3] Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12 [J].

Holmes, SE ;

O'Hearn, EE ;

McInnis, MG ;

Gorelick-Feldman, DA ;

Kleiderlein, JJ ;

Callahan, C ;

Kwak, NG ;

Ingersoll-Ashworth, RG ;

Sherr, M ;

Sumner, AJ ;

Sharp, AH ;

Ananth, U ;

Seltzer, WK ;

Boss, MA ;

Vieria-Saecker, AM ;

Epplen, JT ;

Riess, O ;

Ross, CA ;

Margolis, RL .

NATURE GENETICS, 1999, 23 (04) :391-392

[4] Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA [J].

Koob, MD ;

Benzow, KA ;

Bird, TD ;

Day, JW ;

Moseley, ML ;

Ranum, LPW .

NATURE GENETICS, 1998, 18 (01) :72-75

[5] Initial sequencing and analysis of the human genome [J].

Lander, ES ;

Int Human Genome Sequencing Consortium ;

Linton, LM ;

Birren, B ;

Nusbaum, C ;

Zody, MC ;

Baldwin, J ;

Devon, K ;

Dewar, K ;

Doyle, M ;

FitzHugh, W ;

Funke, R ;

Gage, D ;

Harris, K ;

Heaford, A ;

Howland, J ;

Kann, L ;

Lehoczky, J ;

LeVine, R ;

McEwan, P ;

McKernan, K ;

Meldrim, J ;

Mesirov, JP ;

Miranda, C ;

Morris, W ;

Naylor, J ;

Raymond, C ;

Rosetti, M ;

Santos, R ;

Sheridan, A ;

Sougnez, C ;

Stange-Thomann, N ;

Stojanovic, N ;

Subramanian, A ;

Wyman, D ;

Rogers, J ;

Sulston, J ;

Ainscough, R ;

Beck, S ;

Bentley, D ;

Burton, J ;

Clee, C ;

Carter, N ;

Coulson, A ;

Deadman, R ;

Deloukas, P ;

Dunham, A ;

Dunham, I ;

Durbin, R ;

French, L .

NATURE, 2001, 409 (6822) :860-921

[6] A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion [J].

Margolis, RL ;

O'Hearn, E ;

Rosenblatt, A ;

Willour, V ;

Holmes, SE ;

Franz, ML ;

Callahan, C ;

Hwang, HS ;

Troncoso, JC ;

Ross, CA .

ANNALS OF NEUROLOGY, 2001, 50 (03) :373-380

[7] cDNAs with long CAG trinucleotide repeats from human brain [J].

Margolis, RL ;

Abraham, MR ;

Gatchell, SB ;

Li, SH ;

Kidwai, AS ;

Breschel, TS ;

Stine, OC ;

Callahan, C ;

McInnis, MG ;

Ross, CA .

HUMAN GENETICS, 1997, 100 (01) :114-122

[8] Characterization of human junctophilin subtype genes [J].

Nishi, M ;

Mizushima, A ;

Nakagawara, K ;

Takeshima, H .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2000, 273 (03) :920-927

[9] Junctophilins: A novel family of junctional membrane complex proteins [J].

Takeshima, H ;

Komazaki, S ;

Nishi, M ;

Lino, M ;

Kangawa, K .

MOLECULAR CELL, 2000, 6 (01) :11-22

[10] The sequence of the human genome [J].

Venter, JC ;

Adams, MD ;

Myers, EW ;

Li, PW ;

Mural, RJ ;

Sutton, GG ;

Smith, HO ;

Yandell, M ;

Evans, CA ;

Holt, RA ;

Gocayne, JD ;

Amanatides, P ;

Ballew, RM ;

Huson, DH ;

Wortman, JR ;

Zhang, Q ;

Kodira, CD ;

Zheng, XQH ;

Chen, L ;

Skupski, M ;

Subramanian, G ;

Thomas, PD ;

Zhang, JH ;

Miklos, GLG ;

Nelson, C ;

Broder, S ;

Clark, AG ;

Nadeau, C ;

McKusick, VA ;

Zinder, N ;

Levine, AJ ;

Roberts, RJ ;

Simon, M ;

Slayman, C ;

Hunkapiller, M ;

Bolanos, R ;

Delcher, A ;

Dew, I ;

Fasulo, D ;

Flanigan, M ;

Florea, L ;

Halpern, A ;

Hannenhalli, S ;

Kravitz, S ;

Levy, S ;

Mobarry, C ;

Reinert, K ;

Remington, K ;

Abu-Threideh, J ;

Beasley, E .

SCIENCE, 2001, 291 (5507) :1304-+

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