Artigo Acesso aberto Produção Nacional Revisado por pares

Correction: Mitochondrial DNA Variation in Amerindians

2003; Elsevier BV; Volume: 72; Issue: 5 Linguagem: Inglês

10.1086/375118

ISSN

1537-6605

Autores

Wilson A. Silva, Sandro L. Bonatto, Adriano J. Holanda, Ândrea Ribeiro‐dos‐Santos, Beatriz M. Paixão, Gustavo H. Goldman, Kiyoko Abe‐Sandes, Luis Rodríguez-Delfín, Marcela de Matos Barbosa, Maria Luiza Paçó-Larson, Maria Luiza Petzl‐Erler, Valéria Valente, E.B. Sidney Santos, Marco A. Zago,

Tópico(s)

Forensic and Genetic Research

Resumo

To the Editor: We thank Yao et al. (Yao et al., 2003Yao Y-G Macaulay V Kivisild T Zhang Y-P Bandelt H-J To trust or not to trust an idiosyncratic mitochondrial data set.Am J Hum Genet. 2003; 72 (in this issue): 1341-1346Abstract Full Text Full Text PDF PubMed Scopus (32) Google Scholar [in this issue]) for calling our attention to inconsistencies in our data reporting mitochondrial DNA variations in Amerindians (Silva et al. Silva et al., 2002Silva Jr, WA Bonatto SL Holanda AJ Ribeiro-dos-Santos AK Paixão BM Goldman GH Abe-Sandes K Rodriguez-Delfin L Barbosa M Paçó-Larson ML Petzl-Erler ML Valente V Santos SEB Zago MA Mitochondrial genome diversity of Native Americans supports a single early entry of founder populations into America.Am J Hum Genet. 2002; 71: 187-192Abstract Full Text Full Text PDF PubMed Scopus (79) Google Scholar). We reviewed the original chromatograms and resequenced all the samples (forward and reverse). On the basis of the reanalysis of the initial data and sequencing that has been repeated, we conclude that most criticisms of Yao et al. are correct. We identified two sources of problems: (a) alignment with a variant CRS (Macaulay et al. Macaulay et al., 1999Macaulay V Richards M Sykes B Mitochondrial DNA recombination: no need to panic.Proc R Soc Lond B. 1999; 266: 2037-2039Crossref PubMed Scopus (45) Google Scholar) and (b) mutations missed at regions of low-quality chromatograms in one (forward or reverse) of the first sequencing. Elimination of these two problems, by a second (and, in a few cases, a third) sequencing, careful manual checking of the chromatograms, and use of the correct rCRS reference sequence (MITOMAP) eliminated the discrepancies. A summary of all 40 corrected sequences is presented in figure 1, and the general pattern is similar to that recently reported by Herrnstadt et al. (Herrnstadt et al., 2002Herrnstadt C Elson JL Fahy E Preston G Turnbull DM Anderson C Ghosh SS Olefsky JM Beal MF Davis RE Howell N Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups.Am J Hum Genet. 2002; 70: 1152-1171Abstract Full Text Full Text PDF PubMed Scopus (429) Google Scholar). The presence of a private mutation in more than one individual or the absence of a basal mutation probably represent examples of homoplasy or of reverse mutations. Extensive homoplasy within the coding region of mtDNA has been documented (Eyre-Walker et al. Eyre-Walker et al., 1999Eyre-Walker A Smith NH Maynard Smith J Reply to Macaulay et al (1999): mitochondrial DNA recombination: reasons to panic.Proc R Soc Lond B. 1999; 266: 2041-2042Crossref Scopus (16) Google Scholar; Herrnstadt et al. Herrnstadt et al., 2002Herrnstadt C Elson JL Fahy E Preston G Turnbull DM Anderson C Ghosh SS Olefsky JM Beal MF Davis RE Howell N Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups.Am J Hum Genet. 2002; 70: 1152-1171Abstract Full Text Full Text PDF PubMed Scopus (429) Google Scholar) and will probably be found more often as the number of mtDNA samples sequenced increases. For instance, the group C basal mutation 9545G was found in one individual from the haplogroup A, whereas private mutation 14460G was found in two individuals who belong to haplogroups A and D, and 15670C is present in one individual who belongs to haplogroup A and two who belong to haplogroup C (Herrnstadt et al. Herrnstadt et al., 2002Herrnstadt C Elson JL Fahy E Preston G Turnbull DM Anderson C Ghosh SS Olefsky JM Beal MF Davis RE Howell N Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups.Am J Hum Genet. 2002; 70: 1152-1171Abstract Full Text Full Text PDF PubMed Scopus (429) Google Scholar). The finding of two similar private mutations (12406A) in two individuals of the same tribe (TYR0004 and TYR0016) is probably the consequence of a single mutational event, as is the occurrence of the reverse mutation 8584 in two individuals of another tribe (YAN0669 and YAN0650). Recalculation of the age estimates for the four founder haplogroups on the basis of the reviewed data continues to show similarities between the four haplogroups and does not differ significantly from the previously published values (table 1). This supports our primary conclusion in favor of a single migration wave, with a mean age for the four haplogroups of 12,366–19,074 years before present.Table 1Nucleotide Diversity and Age Estimates for mtDNA Belonging to the Four Founder Haplogroups of New World NativesHaplogroupNo. of SequencesGenetic Diversityaπ(×10-3). (SE)Mean Age in YearsbCalculated as in Silva et al. (2002). (95% CI)A100.73 (0.15)15,398 (12,052–18,744)B110.75 (0.14)15,819 (12,659–18,970)C90.64 (0.13)13,520 (10,616–17,425)D50.86 (0.18)18,144 (14,137–22,151) Weighted mean0.75 (0.15)15,720 (12,366–19,074)a π(×10-3).b Calculated as in Silva et al. (Silva et al., 2002Silva Jr, WA Bonatto SL Holanda AJ Ribeiro-dos-Santos AK Paixão BM Goldman GH Abe-Sandes K Rodriguez-Delfin L Barbosa M Paçó-Larson ML Petzl-Erler ML Valente V Santos SEB Zago MA Mitochondrial genome diversity of Native Americans supports a single early entry of founder populations into America.Am J Hum Genet. 2002; 71: 187-192Abstract Full Text Full Text PDF PubMed Scopus (79) Google Scholar). Open table in a new tab The revised versions of the sequences have been submitted to GenBank.

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