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Human Molecular Genetics, 2000, Vol. 9, No. 13 2029-2042
© 2000 Oxford University Press

Genomic sequence and transcriptional profile of the boundary between pericentromeric satellites and genes on human chromosome arm 10q

J. Guy1, C. Spalluto1,2, A. McMurray3, T. Hearn1, M. Crosier1, L. Viggiano2, V. Miolla2, N. Archidiacono2, M. Rocchi2, C. Scott3, P.A. Lee4, J. Sulston3, J. Rogers3, D. Bentley3 and M.S. Jackson1,+

1Human Genetics Unit, School of Biochemistry and Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne NE1 7RU, UK, 2DAPEG, Sezione di Genetica, Università di Bari, Via Amendola 165/A, 70126 Bari, Italy, 3Sanger Sequencing Centre, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, UK and 4Department of Computer Science, University of Newcastle upon Tyne, Newcastle upon Tyne NE1 7RU, UK

The organization of centromeric heterochromatin has been established in a number of eucaryotes but remains poorly defined in human. Here we present 1025 kb of contiguous human genomic sequence which links pericentromeric satellites to the RET proto-oncogene in 10q11.2 and is presumed to span the transition from centric heterochromatin to euchromatin on this chromosome arm. Two distinct domains can be defined within the sequence. The proximal ~240 kb consists of arrays of satellites and other tandem repeats separated by tracts of complex sequence which have evolved by pericentromeric-directed duplication. Analysis of 32 human paralogues of these sequences indicates that most terminate at or within repeat arrays, implicating these repeats in the interchromosomal duplication process. Corroborative PCR-based analyses establish a genome-wide correlation between the distribution of these paralogues and the distribution of satellite families present in 10q11. In contrast, the distal ~780 kb contains few tandem repeats and is largely chromosome specific. However, a minimum of three independent intrachromosomal duplication events have resulted in >370 kb of this sequence sharing >90% identity with sequences on 10p. Using computer-based analyses and RT–PCR we confirm the presence of three genes within the sequence, ZNF11/33B, KIAA0187 and RET, in addition to five transcripts of unknown structure. All of these transcribed sequences map distal to the satellite arrays. The boundary between satellite-rich interchromosomally duplicated DNA and chromosome-specific DNA therefore appears to define a transition from pericentromeric heterochromatin to euchromatin on the long arm of this chromosome.

+ To whom correspondence should be addressed. Tel: +44 191 222 8005; Fax: +44 191 222 6662; Email: mjackson@hgmp.mrc.ac.uk


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