Low-Pass DNA Sequencing of 1200 Sardinians Reconstructs European Y-Chromosome Phylogeny

Author:

Francalacci Paolo1,Morelli Laura1,Angius Andrea23,Berutti Riccardo34,Reinier Frederic3,Atzeni Rossano3,Pilu Rosella2,Busonero Fabio25,Maschio Andrea25,Zara Ilenia3,Sanna Daria1,Useli Antonella1,Urru Maria Francesca3,Marcelli Marco3,Cusano Roberto3,Oppo Manuela3,Zoledziewska Magdalena24,Pitzalis Maristella24,Deidda Francesca24,Porcu Eleonora245,Poddie Fausto4,Kang Hyun Min5,Lyons Robert6,Tarrier Brendan6,Gresham Jennifer Bragg6,Li Bingshan7,Tofanelli Sergio8,Alonso Santos9,Dei Mariano2,Lai Sandra2,Mulas Antonella2,Whalen Michael B.2,Uzzau Sergio410,Jones Chris3,Schlessinger David11,Abecasis Gonçalo R.5,Sanna Serena2,Sidore Carlo245,Cucca Francesco24

Affiliation:

1. Dipartimento di Scienze della Natura e del Territorio, Università di Sassari, 07100 Sassari, Italy.

2. Istituto di Ricerca Genetica e Biomedica (IRGB), CNR, Monserrato, Italy.

3. Center for Advanced Studies, Research and Development in Sardinia (CRS4), Pula, Italy.

4. Dipartimento di Scienze Biomediche, Università di Sassari, 07100 Sassari, Italy.

5. Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, USA.

6. DNA Sequencing Core, University of Michigan, Ann Arbor, MI 48109, USA.

7. Center for Human Genetics Research, Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, TN 37235, USA.

8. Dipartimento di Biologia, Università di Pisa, 56126 Pisa, Italy.

9. Departamento de Genética, Antropología Física y Fisiología Animal, Universidad del País Vasco/Euskal Herriko Unibertsitatea, 48080 Bilbao, Spain.

10. Porto Conte Ricerche, Località Tramariglio, Alghero, 07041 Sassari, Italy.

11. Laboratory of Genetics, National Institute on Aging, Baltimore, MD 21224, USA.

Abstract

Examining Y The evolution of human populations has long been studied with unique sequences from the nonrecombining, male-specific Y chromosome (see the Perspective by Cann ). Poznik et al. (p. 562 ) examined 9.9 Mb of the Y chromosome from 69 men from nine globally divergent populations—identifying population and individual specific sequence variants that elucidate the evolution of the Y chromosome. Sequencing of maternally inherited mitochondrial DNA allowed comparison between the relative rates of evolution, which suggested that the coalescence, or origin, of the human Y chromosome and mitochondria both occurred approximately 120 thousand years ago. Francalacci et al. (p. 565 ) investigated the sequence divergence of 1204 Y chromosomes that were sampled within the isolated and genetically informative Sardinian population. The sequence analyses, along with archaeological records, were used to calibrate and increase the resolution of the human phylogenetic tree.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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