Work

Variable heteroplasmy of the Common 9-bp Deletion in the Human Mitochondrial Genome in Ancient and Present-Day Populations

Year: 2024

Type: article

Abstract: genes of the human mitochondrial genome is present in various world populations and has been linked to disease. The heteroplasmy of this deletion in the different carrier mitochondrial lineages, however, has remained largely unexplored. Employing deep sequencing mitochondrial DNA data, we quantified the deletion in diverse ancient and present-day human populations. We observed low 9-bp deletion heteroplasmy in specific haplogroups of ancient populations from various continents, high levels in their closely-related present-day populations, and independent emergence at high levels in isolated present-day lineages, always without reaching complete homoplasmy.

Source: PubMed

DOI: 10.17912/micropub.biology.001482

Authors: Flor C. Alcántar-Aguirre, Carlos Lozano-Flores, Maribel Hernández-Rosales, Alfredo Varela-Echavarría

Institutions: Universidad Nacional Autónoma de México, Centro de Investigación y de Estudios Avanzados del Instituto Politécnico Nacional

Language: English

Topic: Forensic and Genetic Research

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funder: Dirección General de Asuntos del Personal Académico, Universidad Nacional Autónoma de México