Mutation in Brief

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Molecular dissection of the Y chromosome haplogroup E-M78 (E3b1a): a posteriori evaluation of a microsatellite-network-based approach through six new biallelic markers†‡

  1. Fulvio Cruciani1,
  2. Roberta La Fratta1,
  3. Antonio Torroni2,
  4. Peter A. Underhill3,
  5. Rosaria Scozzari1,4,*

Article first published online: 11 JUL 2006

DOI: 10.1002/humu.9445

Issue

Human Mutation

Human Mutation

Volume 27, Issue 8, pages 831–832, August 2006

Additional Information

How to Cite

Cruciani, F., La Fratta, R., Torroni, A., Underhill, P. A. and Scozzari, R. (2006), Molecular dissection of the Y chromosome haplogroup E-M78 (E3b1a): a posteriori evaluation of a microsatellite-network-based approach through six new biallelic markers. Hum. Mutat., 27: 831–832. doi: 10.1002/humu.9445

Author Information

  1. 1

    Dipartimento di Genetica e Biologia Molecolare, Università “La Sapienza”, Rome, Italy

  2. 2

    Dipartimento di Genetica e Microbiologia, Università di Pavia, Pavia, Italy

  3. 3

    Department of Genetics, Stanford University, Stanford, California

  4. 4

    Istituto di Biologia e Patologia Molecolari, Consiglio Nazionale delle Ricerche, Rome, Italy

*Dipartimento di Genetica e Biologia Molecolare, Università “La Sapienza”, Piazzale A. Moro 5, 00185 Rome, Italy

  1. †

    Communicated by Peter Oefner

  2. ‡

    Online Citation: Human Mutation, Mutation in Brief #916 (2006) Online http://www3.interscience.wiley.com/homepages/38515/pdf/916.pdf

Publication History

  1. Issue published online: 11 JUL 2006
  2. Article first published online: 11 JUL 2006
  3. Manuscript Accepted: 26 APR 2006
  4. Manuscript Received: 12 FEB 2006

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Keywords:

  • Y-chromosome;
  • microsatellite;
  • polymorphism;
  • haplogroup;
  • network;
  • human evolution

Abstract

The human Y chromosome haplogroup E-M78 (E3b1a) occurs commonly and is distributed in northern and eastern Africa, western Asia, and all of Europe. Previously, only two rarely observed internal biallelic markers (UEPs) were known within the E-M78 clade. Here we report the identification of six novel UEPs that significantly refine the phylogeny of this haplogroup. Then, we evaluate the correspondence between the newly defined sub-haplogroups and the E-M78 haplotype clusters previously identified by an 11-microsatellite loci-based network encompassing 232 chromosomes (Cruciani et al., 2004). We observed considerable correspondence between the trees generated by the two types of markers, but also noted important discrepancies between microsatellite and UEP findings. Overall, this analysis reveals that the currently visible terminal branches of the Y tree still contain a large amount of information, in terms of undiscovered biallelic markers, and that caution is needed when using the microsatellite alleles as surrogates of unique event polymorphisms. © 2006 Wiley-Liss, Inc.

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