Gene: [0Mh15925/MTATT] inner membrane attachment region (mitochondrial D-loop); mitochondrial myopathy/ophthalmoplegia, adult progressive; [MTMA DLOOP ]

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)."
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.
REF	FAG,GEN "Doda JN &: PNAS, 78, 6116-6120, 1981 HET,PAT,MUT,MOL "Zeviani M &: Nature, 339, (25 May), N6222, 309-311, 1989
KEY	mito, chr, repr, trc
CLA	coding, basic
LOC	0M H15925-16569-499
MIM	?
SYN	MTMA DLOOP