Sequencing errors in Native American mitogenomes: impact on clade definitions, haplogroup assignation, and beyond.

AQUILANO, ELIANA; CONSTANZA DE LA FUENTE,; DANIELA RODRÍGUEZ GOLPE; JOSEFINA M.B. MOTTI; BRAVI CLAUDIO M

MITOCHONDRION

ELSEVIER SCI LTD

Lugar: Amsterdam; Año: 2023 vol. 70 p. 54 - 58

1567-7249

Available evidence allows to interpret that some cases of absence of otherwise expected variation, based on phylogenetic expectations in mitogenomes of Native American origin, are due to artificial recombination rather than to homoplasy, while other more complex scenarios involving combination of original Cambridge Reference Sequence mistakes plus incomplete or incorrect scoring of variation are also showed. Several instances of mismatched control and coding regions as well as partially duplicated HV2 are observed in Peruvians, while intra-haplogroup chimaeras of different D1 subhaplogroups are referred to in Mexican Native Americans. A revised definition for haplogroup B2h is proposed, and preventive quality control measures are suggested