Modification of 15q11 -- q13 DNA methylation imprints in unique Angelman and Prader -- Willi patients |
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| Authors: | Glenn Christopher C; Nicholls Robert D; Robinson Wendy P; Saitoh Shinjl; Nllkawa Norlo; Schlnzel Albert; Horsthemke Bernhard; Driscoll Daniel J |
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| Institution: | 1R.C.Phillps Research and Education Unit, Divison of Genestics, Department of Pediatrics, and Center for Mammalian Genetics, University of Florida College of Medicine Gaineaville, FL 32610, USA
2Department of Immunology and Medical Microbiology, University of Florida College of Medicine Gaineaville, FL 32610, USA
3Department of Neuroscience, and University of Florida Brain Institute, University of Florida College of Medicine Gaineaville, FL 32610, USA
4Institute of Medical Genetics, University of Zürich Ramistrasee 74, CH-8001 Zürich, Switzerland
5Department of Human Genetics, Nagasaki University School of Medicine Sakamoto-machi 12-4 Nagasaki 852, Japan
6Institute für Humangenetik, Univeraltataldinkum Essen Hufelandstrasee 55, W-4300 Essen 1, Germany |
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| Abstract: | The clearest example of genomic Imprinting in humans comes fromstudies of the Angelman (AS) and Prader—Wil (PWS) syndromes.Although these are clinically distinct disorders, both typicallyresult from a loss of the same chromosomal region, 15q11 - q13.AS usually results from either a maternal deletion of this region,or paternal uniparental disomy (UPD; both chromosomes 15 Inheritedfrom the father). PWS results from paternal deletion of 15q11- q13 or maternal UPD of chromosome 15. We have recently describeda parent-specific DNA methylation imprint in a gene at the D15S9locus (new gene symbol, ZNF 127), within the 15q11 - q13 region,that identifies AS and PWS patients with either a deletion orUPD. Here we describe an AS sibship and three PWS patients inwhich chromosome 15 rearrangements alter the methylation stateat ZNF127, even though this locus is not directly involved inthe rearrangement. Parent-specific DNA methylation imprintsare also altered at ZNF127 and D15S63 (another locus with aparent-specific methylation imprint) in an AS sibship whichhave no detectable deletion or UPD of chromosome 15. These uniquepatients may provide insight into the imprinting process thatoccurs in proximal chromosome 15 in humans. |
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