Extreme heterogeneity of human mitochondrial DNA from organelles to populations.
Nat Rev Genet
; 22(2): 106-118, 2021 02.
Article
en En
| MEDLINE
| ID: mdl-32989265
ABSTRACT
Contrary to the long-held view that most humans harbour only identical mitochondrial genomes, deep resequencing has uncovered unanticipated extreme genetic variation within mitochondrial DNA (mtDNA). Most, if not all, humans contain multiple mtDNA genotypes (heteroplasmy); specific patterns of variants accumulate in different tissues, including cancers, over time; and some variants are preferentially passed down or suppressed in the maternal germ line. These findings cast light on the origin and spread of mtDNA mutations at multiple scales, from the organelle to the human population, and challenge the conventional view that high percentages of a mutation are required before a new variant has functional consequences.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
ADN Mitocondrial
/
Orgánulos
/
Heterogeneidad Genética
Límite:
Animals
/
Humans
Idioma:
En
Revista:
Nat Rev Genet
Asunto de la revista:
GENETICA
Año:
2021
Tipo del documento:
Article
País de afiliación:
Alemania