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Human Molecular Genetics, 2000, Vol. 9, No. 3 421-430
© 2000 Oxford University Press

A polymorphic L1 retroposon insertion in the centromere of the human Y chromosome

Fabrício R. Santos+, Arpita Pandya, Manfred Kayser1, R. John Mitchell2, Aiping Liu3, Lalji Singh4, Giovanni Destro-Bisol5, Andrea Novelletto6, Raheel Qamar7, S. Qasim Mehdi7, Raju Adhikari, Peter de Knijff8 and Chris Tyler-Smith{ddagger}

Department of Biochemistry, University of Oxford, South Parks Road, Oxford OX1 3QU, UK, 1Institut für Rechtsmedizin, Humboldt-Universität zu Berlin, Berlin, Germany, 2Unit of Human Genetics, School of Biochemistry and Genetics, La Trobe University, Bundoora, Victoria 3083, Australia, 3Auckland Cancer Research Centre, Faculty of Medicine and Health Science, University of Auckland, Private Bag 92019, Auckland, New Zealand, 4Centre for Cellular and Molecular Biology, Uppal Road, Hyderabad, India, 5Dipartimento di Biologia Animale e dell’Uomo, Università ‘La Sapienza’, Roma, Italy, 6Department of Cell Biology, University of Calabria, Rende, Italy, 7Biomedical and Genetic Engineering Laboratories, PO Box 2891, Islamabad, Pakistan, 8Forensic Laboratory for DNA Research, MGC-Department of Human and Clinical Genetics, Leiden University Medical Center, PO Box 9503, 2300 RA Leiden, The Netherlands

We have identified a novel polymorphic L1 retroposon insertion, designated LY1, in the centromeric alphoid array of the human Y chromosome. The element belongs to the transpositionally active Ta subset and its presence is compatible with normal centromere function. It was found at highest frequency in China, where it accounts for 23% of the Han sample, and was present at low frequencies in the surrounding areas, but was not found at all outside Asia. Chromosomes carrying LY1 show considerable microsatellite diversity, suggesting an ancient origin for the lineage at ~10 000 years ago (with wide confidence limits), but only limited subsequent migration.

+ Present address: Departamento de Biologia Geral, ICB/UFMG, Caixa Postal 486, 31.270–910 Belo Horizonte, MG, Brazil

§ Present address: Max Planck Institute for Evolutionary Anthropology, Department of Evolutionary Genetics, Inselstrasse 22, D-04103 Leipzig, Germany

Present address: Nuffield Department of Clinical Medicine, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DU, UK

{ddagger} To whom correspondence should be addressed. Tel: +44 1865 275222; Fax: +44 1865 275259; Email: chris@bioch.ox.ac.uk


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