Gene: [0Mh15925/MTATT] inner membrane attachment region (mitochondrial D-loop); mitochondrial myopathy/ophthalmoplegia, adult progressive; [MTMA DLOOP ]
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GEN |
[1] The gene length: 1.14 kb (1144 bp).
[2] HGM divides the MTATT region into three subregions: (1) MTTAS/251.16157 <0M H16.157-16.172>; termination associated sequence (mitochondrial); Doda-1981; gene length: 0.02 kb (16 bp); (2) MT7SDNA/251.16106 <0M H16.106-16.569-0.110>; H-strand 7S-region of mitochondrial displacement (D)-loop; gene length: 0.67 kb (674 bp); and (3) MTHPR/251.317 <0M H0.317-0.321>; H-strand replication primer (mitochondrial); gene length: 0.01 kb (5 bp)." |
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PAT |
The described by Zeviani-1989 family with autosomal dominant myopathy/ophthalmoplegia (characterized by multiple large D-loop deletions in mitochondrial genome of preferably muscle cells) is of significant interest as an example of tissue-specific effect of a nuclear gene on mitochondrial DNA. The disruption of replication and transcription of mitochondrial DNA can result in the large deletions that cause a specific pathologic phenotype manifestation." |
|
REL |
GEM:0X^/OPEM. |
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REF |
FAG,GEN "Doda JN &: PNAS, 78, 6116-6120, 1981 HET,PAT,MUT,MOL "Zeviani M &: Nature, 339, (25 May), N6222, 309-311, 1989 |
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KEY |
mito, chr, repr, trc |
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CLA |
coding, basic |
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LOC |
0M H15925-16569-499 |
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MIM |
? |
|
SYN |
MTMA DLOOP |
