caa a22 4500 397573405 CHVBK 20180308164847.0 cr unu---uuuuu 161202e199611 xx s 000 0 eng 10.1093/hmg/5.11.1767 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.11.1767 Recurrent Duplication and Deletion Polymorphisms on the Long Arm of the Y Chromosome in Normal Males [Elektronische Daten] [Mark A. Jobling, Vassiliki Samara, Arpita Pandya, Neale Fretwell, Barbara Bernasconi, R. John Mitchell, Tudevdagva Gerelsaikhan, Bumbein Dashnyam, Antti Sajantila, Pia J. Salo, Yutaka Nakahori, Christine M. Disteche, Kumarasamy Thangaraj, Lalji Singh, Michael H. Crawford, Chris Tyler-Smith] Deletion of the 50f2/C (DYS7C) locus in interval 6 of Yq has previously been reported as a polymorphism in three males. We describe a survey of worldwide populations for further instances of this deletion. Of 859 males tested, 55 (∼6%) show absence of the 50f2/C locus; duplication of the locus was also detected in eight out of 595 males (∼1.4%). Populations having the deletion are confined to Asia, Australasia, and southern and northern Europe; of those of reasonable sample size, Finns had the highest deletion frequency (55%; n = 21). The deletions vary in size and the larger ones remove some of the RBM (RNA Binding Motif) genes, but none of the deletion males lack DAZ (Deleted in AZoospermia), a candidate gene for the azoospermia factor. On a tree of Y haplotypes, 28 deletion and eight duplication chromosomes fall into six and four haplotypic groups respectively, each of which is likely to represent an independent deletion or duplication event. Microsatellite and other haplotyping data suggest the existence of at least two further classes of deletion. Thus duplications and deletions in this region of Yq have occurred many times in human evolution, but remain useful markers for paternal lineages. © 1996 Oxford University Press Jobling Mark A. Department of Genetics, University of Leicester, University Road, Leicester LE1 7RH, UK aut Samara Vassiliki Department of Genetics, University of Leicester, University Road, Leicester LE1 7RH, UK aut Pandya Arpita CRC Chromosome Molecular Biology Group, Department of Biochemistry, University of Oxford, South Parks Road, Oxford OX1 3QU, UK aut Fretwell Neale Department of Genetics, University of Leicester, University Road, Leicester LE1 7RH, UK aut Bernasconi Barbara CRC Chromosome Molecular Biology Group, Department of Biochemistry, University of Oxford, South Parks Road, Oxford OX1 3QU, UK aut Mitchell R. John Department of Genetics and Human Variation, La Trobe University, Bundoora Campus, Bundoora, Victoria 3083, Australia aut Gerelsaikhan Tudevdagva Department of Molecular Biology, Institute of Biotechnology, Academy of Sciences, Ulaanbaatar-51, Mongolia aut Dashnyam Bumbein Department of Molecular Biology, Institute of Biotechnology, Academy of Sciences, Ulaanbaatar-51, Mongolia aut Sajantila Antti Department of Forensic Medicine, University of Helsinki, PO Box 40, FIN 00014 Helsinki, Finland aut Salo Pia J. Department of Medical Genetics, University of Helsinki, PO Box 21, FIN 00014 Helsinki, Finland aut Nakahori Yutaka Department of Human Genetics, School of International Health, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113, Japan aut Disteche Christine M. Department of Pathology, University of Washington, Seattle, WA 98195, USA aut Thangaraj Kumarasamy CCMB, Uppal Road, Hyderabad 500 007, India aut Singh Lalji CCMB, Uppal Road, Hyderabad 500 007, India aut Crawford Michael H. Department of Anthropology, University of Kansas, Lawrence, KA, USA aut Tyler-Smith Chris CRC Chromosome Molecular Biology Group, Department of Biochemistry, University of Oxford, South Parks Road, Oxford OX1 3QU, UK aut Human Molecular Genetics Oxford University Press 5/11(1996-11), 1767-1775 0964-6906 5:11<1767 1996 5 hmg https://doi.org/10.1093/hmg/5.11.1767 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.11.1767 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Jobling Mark A. Department of Genetics, University of Leicester, University Road, Leicester LE1 7RH, UK aut NATIONALLICENCE 700 1- Samara Vassiliki Department of Genetics, University of Leicester, University Road, Leicester LE1 7RH, UK aut NATIONALLICENCE 700 1- Pandya Arpita CRC Chromosome Molecular Biology Group, Department of Biochemistry, University of Oxford, South Parks Road, Oxford OX1 3QU, UK aut NATIONALLICENCE 700 1- Fretwell Neale Department of Genetics, University of Leicester, University Road, Leicester LE1 7RH, UK aut NATIONALLICENCE 700 1- Bernasconi Barbara CRC Chromosome Molecular Biology Group, Department of Biochemistry, University of Oxford, South Parks Road, Oxford OX1 3QU, UK aut NATIONALLICENCE 700 1- Mitchell R. John Department of Genetics and Human Variation, La Trobe University, Bundoora Campus, Bundoora, Victoria 3083, Australia aut NATIONALLICENCE 700 1- Gerelsaikhan Tudevdagva Department of Molecular Biology, Institute of Biotechnology, Academy of Sciences, Ulaanbaatar-51, Mongolia aut NATIONALLICENCE 700 1- Dashnyam Bumbein Department of Molecular Biology, Institute of Biotechnology, Academy of Sciences, Ulaanbaatar-51, Mongolia aut NATIONALLICENCE 700 1- Sajantila Antti Department of Forensic Medicine, University of Helsinki, PO Box 40, FIN 00014 Helsinki, Finland aut NATIONALLICENCE 700 1- Salo Pia J. Department of Medical Genetics, University of Helsinki, PO Box 21, FIN 00014 Helsinki, Finland aut NATIONALLICENCE 700 1- Nakahori Yutaka Department of Human Genetics, School of International Health, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113, Japan aut NATIONALLICENCE 700 1- Disteche Christine M. Department of Pathology, University of Washington, Seattle, WA 98195, USA aut NATIONALLICENCE 700 1- Thangaraj Kumarasamy CCMB, Uppal Road, Hyderabad 500 007, India aut NATIONALLICENCE 700 1- Singh Lalji CCMB, Uppal Road, Hyderabad 500 007, India aut NATIONALLICENCE 700 1- Crawford Michael H. Department of Anthropology, University of Kansas, Lawrence, KA, USA aut NATIONALLICENCE 700 1- Tyler-Smith Chris CRC Chromosome Molecular Biology Group, Department of Biochemistry, University of Oxford, South Parks Road, Oxford OX1 3QU, UK aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/11(1996-11), 1767-1775 0964-6906 5:11<1767 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford