Identification and expression of a mouse ortholog of A2BP1

被引：41

作者：

Kiehl, TR

Shibata, H

Vo, T

Huynh, DP

Pulst, SM ^{[1
]}

机构：

[1] Cedars Sinai Med Ctr, Ross Moss Lab Parkinson & Neurodegenerat Dis, Burns & Allen Res Inst, Los Angeles, CA 90048 USA

[2] Univ Calif Los Angeles, Sch Med, Dept Neurol, Los Angeles, CA 90024 USA

来源：

MAMMALIAN GENOME | 2001年 / 12卷 / 08期

关键词：

D O I：

10.1007/s00335-001-2056-4

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Human ataxin-2 contains a polyglutamine repeat that is expanded in patients with spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is highly conserved in evolution with orthologs in mouse, Caenorhabditis elegans, and Drosophila,melanogaster. It interacts at its C-terminus with ataxin-2 binding protein 1, A2BP1. This study presents a highly conserved mouse ortholog of A2BP1, designated A2bp1. The amino acid sequence of the human and mouse protein is 97.6% identical. This remarkable degree of conservation supports the fact that these proteins have an important basic function in development and differentiation. Sequence analysis reveals the existence of RNA binding motifs. The A2bp1 transcript was found ill various regions of the CNS including cerebellum, cerebral cortex, brain stem, and thalamus/hypothalamus. The A2bp1 protein was detected by immunocytochemistry in the CNS and connective tissue of the mouse embryo starting at stage Ell, as well as in the heart at all stages. Mouse embryos showed varying expression of A2bp1 at all stages, Previous studies in other model systems had implicated the orthologs of ataxin-2 and A2BP1 in development. This study suggests a role for A2bp1 in embryogenesis as well as in the adult nervous system, possibly mediated by a function in RNA distribution or processing.

引用

页码：595 / 601

页数：7

共 29 条

[1] RNA-BINDING PROTEINS AS DEVELOPMENTAL REGULATORS [J].

BANDZIULIS, RJ ;

SWANSON, MS ;

DREYFUSS, G .

GENES & DEVELOPMENT, 1989, 3 (04) :431-437

[2] Interaction of polyadenylate-binding protein with the eIF4G homologue PAIP enhances translation [J].

Craig, AWB ;

Haghighat, A ;

Yu, ATK ;

Sonenberg, N .

NATURE, 1998, 392 (6675) :520-523

[3] Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion [J].

David, G ;

Abbas, N ;

Stevanin, G ;

Durr, A ;

Yvert, G ;

Cancel, G ;

Weber, C ;

Imbert, G ;

Saudou, F ;

Antoniou, E ;

Drabkin, H ;

Gemmill, R ;

Giunti, P ;

Benomar, A ;

Wood, N ;

Ruberg, M ;

Agid, Y ;

Mandel, JL ;

Brice, A .

NATURE GENETICS, 1997, 17 (01) :65-70

[4] The DNA sequence of human chromosome 22 [J].

Dunham, I ;

Shimizu, N ;

Roe, BA ;

Chissoe, S ;

Dunham, I ;

Hunt, AR ;

Collins, JE ;

Bruskiewich, R ;

Beare, DM ;

Clamp, M ;

Smink, LJ ;

Ainscough, R ;

Almeida, JP ;

Babbage, A ;

Bagguley, C ;

Balley, J ;

Barlow, K ;

Bates, KN ;

Beasley, O ;

Bird, CP ;

Blakey, S ;

Bridgeman, AM ;

Buck, D ;

Burgess, J ;

Burrill, WD ;

Burton, J ;

Carder, C ;

Carter, NP ;

Chen, Y ;

Clark, G ;

Clegg, SM ;

Cobley, V ;

Cole, CG ;

Collier, RE ;

Connor, RE ;

Conroy, D ;

Corby, N ;

Coville, GJ ;

Cox, AV ;

Davis, J ;

Dawson, E ;

Dhami, PD ;

Dockree, C ;

Dodsworth, SJ ;

Durbin, RM ;

Ellington, A ;

Evans, KL ;

Fey, JM ;

Fleming, K ;

French, L .

NATURE, 1999, 402 (6761) :489-495

[5]

HODGKIN J, 1994, DEVELOPMENT, V120, P3681

[6] Spinocerebellar ataxia type 7 (SCA7):: a neurodegenerative disorder with neuronal intranuclear inclusions [J].

Holmberg, M ;

Duyckaerts, C ;

Dürr, A ;

Cancel, G ;

Gourfinkel-An, I ;

Damier, P ;

Faucheux, B ;

Trottier, Y ;

Hirsch, EC ;

Agid, Y ;

Brice, A .

HUMAN MOLECULAR GENETICS, 1998, 7 (05) :913-918

[7]

Huynh DP, 1999, ANN NEUROL, V45, P232, DOI 10.1002/1531-8249(199902)45:2<232::AID-ANA14>3.0.CO

[8]

2-7

[9] Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human [J].

Huynh, DP ;

Figueroa, K ;

Hoang, N ;

Pulst, SM .

NATURE GENETICS, 2000, 26 (01) :44-50

[10] Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats [J].

Imbert, G ;

Saudou, F ;

Yvert, G ;

Devys, D ;

Trottier, Y ;

Garnier, JM ;

Weber, C ;

Mandel, JL ;

Cancel, G ;

Abbas, N ;

Durr, A ;

Didierjean, O ;

Stevanin, G ;

Agid, Y ;

Brice, A .

NATURE GENETICS, 1996, 14 (03) :285-291

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