The results of an empirical nucleotide-sequencing approach indicate that the evolution of the human mitochondrial noncoding D-loop is both more rapid and more complex than is revealed by standard phylogenetic approaches. The nucleotide sequence of the D-loop region of the mitochondrial genome was determined for 45 members of a large matrilineal Leber hereditary optic neuropathy pedigree. Two germ-line mutations have arisen in members of one branch of the family, thereby leading to triplasmic descendants with three mitochondrial genotypes. Segregation toward the homoplasmic state can occur within a single generation in some of these descendants, a result that suggests rapid fixation of mitochondrial mutations as a result of developmental bottlenecking. However, slow segregation was observed in other offspring, and therefore no single or simple pattern of segregation can be generalized from the available data. Evidence for rare mtDNA recombination within the D-loop was obtained for one family member. In addition to these germ-line mutations, a somatic mutation was found in the D-loop of one family member. When this genealogical approach was applied to the nucleotide sequences of mitochondrial coding regions, the results again indicated a very rapid rate of evolution.

Item Type:	Refereed Article
Research Division:	Health Sciences
Research Group:	Epidemiology
Research Field:	Epidemiology not elsewhere classified
Objective Division:	Health
Objective Group:	Other health
Objective Field:	Other health not elsewhere classified
UTAS Author:	Mackey, DA (Professor David Mackey)
ID Code:	6621
Year Published:	1996
Web of Science® Times Cited:	184
Deposited By:	Menzies Centre
Deposited On:	1996-08-01
Last Modified:	2011-08-16
Downloads:	0