NDLI: Nuclear mitochondrial interplay in the modulation of the homopolymeric tract length heteroplasmy in the control (D-loop) region of the mitochondrial DNA

Content Provider	Springer Nature Link
Author	Malik, Safarina Sudoyo, Herawati Pramoonjago, Patcharin Suryadi, Helena Sukarna, Tika Njunting, Marleisje Sahiratmadja, Edhyana Marzuki, Sangkot
Copyright Year	2002
Abstract	We have studied the genetic characteristics of a homopolymeric tract length heteroplasmy associated with the 16189C variant in the mtDNA D-loop control region to identify the factor(s) involved in the generation of the length heteroplasmy. The relative proportion of the various lengths of the polycytosines (i.e., the pattern of the length heteroplasmy) is maintained in an individual, and previous evidence shows that it is regenerated de novo following cell divisions. The pattern is maintained in maternally related individuals, suggestive of mtDNA determinants. Of the 38 individuals with the 16189C variant studied, 39% were found to exhibit the 16180AAACCCCCCCCCCC16193 variant associated with A16183C polymorphism [(11C)-group], while 53% showed the 16180AACCCCCCCCCCCC16193 variant associated with a further A16182C polymorphism [(12C)-group]. Haplotype analysis of the mtDNA revealed a specific association of the longer mean length of the poly[C] in the (12C)-group with haplogroup B. A similar association was also observed in the (11C)-group, but with a novel haplogroup. Cybrid constructions revealed that the involvement of nuclear factor(s) in the generation of the length heteroplasmy is prominent in homopolymeric tract of eight cytosines. The nuclearly coded factor(s) is/are presumably related to the fidelity of the nuclearly coded components of the mitochondrial DNA replication machinery.
Starting Page	402
Ending Page	411
Page Count	10
File Format	PDF
ISSN	03406717
Journal	Human Genetics
Volume Number	110
Issue Number	5
e-ISSN	14321203
Language	English
Publisher	Springer-Verlag
Publisher Date	2002-04-04
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Human Genetics Molecular Medicine Gene Function Metabolic Diseases
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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