The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2001-10

AUTHORS

Maria-Céu Moreira, Clara Barbot, Nobutada Tachi, Naoki Kozuka, Eiji Uchida, Toby Gibson, Pedro Mendonça, Manuela Costa, José Barros, Takayuki Yanagisawa, Mitsunori Watanabe, Yoshio Ikeda, Masashi Aoki, Tetsuya Nagata, Paula Coutinho, Jorge Sequeiros, Michel Koenig

ABSTRACT

The newly recognized ataxia–ocular apraxia 1 (AOA1; MIM 208920)1,2,3,4 is the most frequent cause of autosomal recessive ataxia in Japan2,4,5,6,7,8,9 and is second only to Friedreich ataxia in Portugal10. It shares several neurological features with ataxia-telangiectasia, including early onset ataxia, oculomotor apraxia and cerebellar atrophy, but does not share its extraneurological features (immune deficiency, chromosomal instability and hypersensitivity to X-rays). AOA1 is also characterized by axonal motor neuropathy3,5,9 and the later decrease of serum albumin levels and elevation of total cholesterol2,4,5,9. We have identified the gene causing AOA1 and the major Portuguese and Japanese mutations. This gene encodes a new, ubiquitously expressed protein that we named aprataxin. This protein is composed of three domains that share distant homology with the amino-terminal domain of polynucleotide kinase 3′- phosphatase (PNKP), with histidine-triad (HIT) proteins and with DNA-binding C2H2 zinc-finger proteins, respectively. PNKP is involved in DNA single-strand break repair (SSBR)11 following exposure to ionizing radiation and reactive oxygen species. Fragile-HIT proteins (FHIT) cleave diadenosine tetraphosphate, which is potentially produced during activation of the SSBR complex12. The results suggest that aprataxin is a nuclear protein with a role in DNA repair reminiscent of the function of the protein defective in ataxia-telangiectasia, but that would cause a phenotype restricted to neurological signs when mutant. More... »

PAGES

189-193

References to SciGraph publications

Journal

TITLE

Nature Genetics

ISSUE

2

VOLUME

29

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng1001-189

DOI

http://dx.doi.org/10.1038/ng1001-189

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1010346200

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/11586300


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25 schema:description The newly recognized ataxia–ocular apraxia 1 (AOA1; MIM 208920)1,2,3,4 is the most frequent cause of autosomal recessive ataxia in Japan2,4,5,6,7,8,9 and is second only to Friedreich ataxia in Portugal10. It shares several neurological features with ataxia-telangiectasia, including early onset ataxia, oculomotor apraxia and cerebellar atrophy, but does not share its extraneurological features (immune deficiency, chromosomal instability and hypersensitivity to X-rays). AOA1 is also characterized by axonal motor neuropathy3,5,9 and the later decrease of serum albumin levels and elevation of total cholesterol2,4,5,9. We have identified the gene causing AOA1 and the major Portuguese and Japanese mutations. This gene encodes a new, ubiquitously expressed protein that we named aprataxin. This protein is composed of three domains that share distant homology with the amino-terminal domain of polynucleotide kinase 3′- phosphatase (PNKP), with histidine-triad (HIT) proteins and with DNA-binding C2H2 zinc-finger proteins, respectively. PNKP is involved in DNA single-strand break repair (SSBR)11 following exposure to ionizing radiation and reactive oxygen species. Fragile-HIT proteins (FHIT) cleave diadenosine tetraphosphate, which is potentially produced during activation of the SSBR complex12. The results suggest that aprataxin is a nuclear protein with a role in DNA repair reminiscent of the function of the protein defective in ataxia-telangiectasia, but that would cause a phenotype restricted to neurological signs when mutant.
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32 DNA repair
33 DNA single-strand break repair
34 Friedreich
35 Japanese mutations
36 MIM
37 PNKP
38 Zn-finger proteins
39 activation
40 albumin levels
41 amino-terminal domain
42 aprataxin
43 apraxia
44 ataxia
45 ataxia telangiectasia
46 atrophy
47 autosomal recessive ataxia
48 axonal motor
49 break repair
50 cause
51 cerebellar atrophy
52 decrease
53 diadenosine tetraphosphate
54 distant homology
55 domain
56 early-onset ataxia
57 elevation
58 elevation of total
59 exposure
60 extraneurological features
61 features
62 frequent cause
63 function
64 genes
65 histidine triad protein
66 homology
67 kinase
68 late decrease
69 levels
70 motor
71 mutations
72 neurological features
73 neurological signs
74 nuclear proteins
75 oculomotor apraxia
76 onset ataxia
77 oxygen species
78 phenotype
79 polynucleotide kinase
80 protein
81 radiation
82 recessive ataxia
83 repair
84 results
85 role
86 serum albumin level
87 signs
88 single-strand break repair
89 species
90 tetraphosphate
91 total
92 zinc finger protein
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