In a previous issue of AJHB, Fernandes et al. (2008. Am J Hum Biol 20:185-190.) describe instances of identity by state at multiple short tandem repeat loci between human Y chromosomes belonging to different E-M35 sub-haplogroups. They interpret these findings as evidence for multiple mutational events in at least two loci (M78 and M81). Here, we introduce a novel polymorphic marker (V68), potentially useful to investigate the issue. This marker and sequence data, reported here for the first time, reinforce our previous interpretations on the phylogenetic structure of the E3b haplogroup. We discuss these results in the frame of general approaches to attain robust phylogenetic inferences based on biallelic polymorphism data.

Cruciani, F., Trombetta, B., Novelletto, A., Scozzari, R. (2008). Recurrent mutation in SNPs within Y chromosome E3b (E-M215) haplogroup: A rebuttal. AMERICAN JOURNAL OF HUMAN BIOLOGY, 20(5), 614-616 [10.1002/ajhb.20790].

Recurrent mutation in SNPs within Y chromosome E3b (E-M215) haplogroup: A rebuttal

NOVELLETTO, ANDREA;
2008-01-01

Abstract

In a previous issue of AJHB, Fernandes et al. (2008. Am J Hum Biol 20:185-190.) describe instances of identity by state at multiple short tandem repeat loci between human Y chromosomes belonging to different E-M35 sub-haplogroups. They interpret these findings as evidence for multiple mutational events in at least two loci (M78 and M81). Here, we introduce a novel polymorphic marker (V68), potentially useful to investigate the issue. This marker and sequence data, reported here for the first time, reinforce our previous interpretations on the phylogenetic structure of the E3b haplogroup. We discuss these results in the frame of general approaches to attain robust phylogenetic inferences based on biallelic polymorphism data.
gen-2008
Pubblicato
Rilevanza internazionale
Articolo
Sì, ma tipo non specificato
Settore BIO/18 - GENETICA
English
Con Impact Factor ISI
allele; article; cladistics; controlled study; CpG island; gene conversion; gene frequency; gene locus; haplotype; human; male; molecular phylogeny; mutational analysis; nucleic acid base substitution; priority journal; sequence analysis; sequence homology; short tandem repeat; single nucleotide polymorphism; Y chromosome; African Continental Ancestry Group; Chromosomes, Human, Y; Genetic Markers; Haplotypes; Humans; Male; Microsatellite Repeats; Mutation; Phylogeny; Polymorphism, Single Nucleotide
Cruciani, F., Trombetta, B., Novelletto, A., Scozzari, R. (2008). Recurrent mutation in SNPs within Y chromosome E3b (E-M215) haplogroup: A rebuttal. AMERICAN JOURNAL OF HUMAN BIOLOGY, 20(5), 614-616 [10.1002/ajhb.20790].
Cruciani, F; Trombetta, B; Novelletto, A; Scozzari, R
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/27671
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