Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease

被引：58

作者：

Marchbank, N. J. ^{[1
]}

Craig, J. E. ^{[2
,5
]}

Leek, J. P. ^{[1
]}

Toohey, M. ^{[3
]}

Churchill, A. J. ^{[4
]}

Markham, A. F. ^{[1
]}

Mackey, D. A. ^{[5
]}

Toomes, C. ^{[1
]}

Inglehearn, C. F. ^{[1
]}

机构：

[1] Univ Leeds, St Jamess Univ Hosp, Mol Med Unit, Leeds LS9 7TF, W Yorkshire, England

[2] Flinders Med Ctr, Adelaide, SA, Australia

[3] Ballarat Eye Clin, Ballarat, Vic, Australia

[4] Bristol Eye Hosp, Bristol BS1 2LX, Avon, England

[5] Royal Victorian Eye & Ear Hosp, CERA, Melbourne, Vic, Australia

来源：

JOURNAL OF MEDICAL GENETICS | 2002年 / 39卷 / 08期

基金：

英国惠康基金;

关键词：

D O I：

10.1136/jmg.39.8.e47

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页数：4

共 17 条

[1] Saturating density of STSs (1/6 kb) in a 1.1 Mb region on 3q28-q29: a valuable resource for cloning of disease genes [J].

Alexander, C ;

Bernstein, SL ;

Rocchi, M ;

Auburger, G .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2001, 9 (04) :307-310

[2] OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28 [J].

Alexander, C ;

Votruba, M ;

Pesch, UEA ;

Thiselton, DL ;

Mayer, S ;

Moore, A ;

Rodriguez, M ;

Kellner, U ;

Leo-Kottler, B ;

Auburger, G ;

Bhattacharya, SS ;

Wissinger, B .

NATURE GENETICS, 2000, 26 (02) :211-215

[3] Physical and transcript map of the dominant optic atrophy (OPA1) gene critical region at 3q28-q29 [J].

Behnam, JT ;

Hamer, C ;

Spalton, D ;

Johnston, R ;

Seller, MJ .

GENOMICS, 2001, 72 (02) :213-216

[4] Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy [J].

Delettre, C ;

Lenaers, G ;

Griffoin, JM ;

Gigarel, N ;

Lorenzo, C ;

Belenguer, P ;

Pelloquin, L ;

Grosgeorge, J ;

Turc-Carel, C ;

Perret, E ;

Astarie-Dequeker, C ;

Lasquellec, L ;

Arnaud, B ;

Ducommun, B ;

Kaplan, J ;

Hamel, CP .

NATURE GENETICS, 2000, 26 (02) :207-210

[5] Mutation spectrum and splicing variants in the OPA1 gene [J].

Delettre, C ;

Griffoin, JM ;

Kaplan, J ;

Dollfus, H ;

Lorenz, B ;

Faivre, L ;

Lenaers, G ;

Belenguer, P ;

Hamel, CP .

HUMAN GENETICS, 2001, 109 (06) :584-591

[6] Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome [J].

Edelmann, L ;

Pandita, RK ;

Morrow, BE .

AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 64 (04) :1076-1086

[7] HUMAN HAPLOINSUFFICIENCY - ONE FOR SORROW, 2 FOR JOY [J].

FISHER, E ;

SCAMBLER, P .

NATURE GENETICS, 1994, 7 (01) :5-7

[8] Isolation, characterization, and chromosome mapping of a human A-C1 Ha-Ras suppressor gene (HRASLS) [J].

Ito, H ;

Akiyama, H ;

Shigeno, C ;

Nakamura, T .

CYTOGENETICS AND CELL GENETICS, 2001, 93 (1-2) :36-39

[9] 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

[10]

Lyle WM., 1990, GENETIC RISKS

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