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Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations

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Abstract

We report clinical findings and molecular cytogenetic analyses for two patients with translocations [t(14;17)(p12;p12) and t(15;17)(p12;p13.2)], in which the chromosome 17 breakpoints map at a large low-copy repeat (LCR) and a breakage-prone TRE-2 (USP6) oncogene, respectively. In family 1, a 6-year-old girl and her 5-year-old brother were diagnosed with mental retardation, short stature, dysmorphic features, and Charcot-Marie-Tooth disease type 1A (CMT1A). G-banding chromosome analysis showed a der(14)t(14;17)(p12;p12) in both siblings, inherited from their father, a carrier of the balanced translocation. Chromosome microarray and FISH analyses revealed that the PMP22 gene was duplicated. The chromosome 17 breakpoint was mapped within an ∼383 kb LCR17pA that is known to also be the site of several breakpoints of different chromosome aberrations including the evolutionary translocation t(4;19) in Gorilla gorilla. In family two, a patient with developmental delay, subtle dysmorphic features, ventricular enlargement with decreased periventricular white matter, mild findings of bilateral perisylvian polymicrogyria and a very small anterior commissure, a cryptic duplication including the Miller–Dieker syndrome region was identified by chromosome microarray analysis. The chromosome 17 breakpoint was mapped by FISH at the TRE-2 oncogene. Both partner chromosome breakpoints were mapped on the short arm acrocentric heterochromatin within or distal to the rRNA cluster, distal to the region commonly rearranged in Robertsonian translocations. We propose that TRE-2 together with LCR17pA, located ∼10 Mb apart, also generated the evolutionary gorilla translocation t(4;19). Our results support previous observations that the USP6 oncogene, LCRs, and repetitive DNA sequences play a significant role in the origin of constitutional chromosome aberrations and primate genome evolution.

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Acknowledgements

We thank Dr. Arthur L. Beaudet for helpful discussions and suggestions. We are grateful to both families for participation in theses studies. This work was supported in part by grants from the National Institute of Child Health and Human Development (PO1 HD39420 to J.R.L.) and the Mental Retardation Research Center (HD24064).

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  1. Paweł Stankiewicz

    Present address: Department of Medical Genetics, Institute of Mother and Child, ul. Kasprzaka 17A, Warsaw, 01-211, Poland

Authors and Affiliations

  1. Department of Molecular & Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm. T821, Houston, TX, 77030, USA

    Zhishuo Ou, Svetlana A. Yatsenko, Beata Nowakowska, Patti Furman, Chad A. Shaw, James R. Lupski, A. Craig Chinault, Sau W. Cheung & Paweł Stankiewicz

  2. Health Research and Education Center, Washington State University, Spokane, WA, USA

    Małgorzata Jarmuż & Lisa G. Shaffer

  3. Texas Scottish Rite Hospital for Children, Dallas, TX, USA

    Steven P. Sparagana

  4. Department of Neurology, University of Texas Southwestern Medical School, Dallas, TX, USA

    Steven P. Sparagana

  5. Research Center, Hôpital Sainte-Justine, Montreal, QC, Canada

    Jacques Michaud & Jean-Claude Décarie

  6. Department of Medical Genetics, Institute of Mother and Child, ul. Kasprzaka 17A, Warsaw, 01-211, Poland

    Beata Nowakowska

  7. Signature Genomic Laboratories, LLC, Spokane, WA, USA

    Lisa G. Shaffer

  8. Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA

    James R. Lupski

  9. Texas Children’s Hospital, Houston, TX , USA

    James R. Lupski

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  1. Zhishuo Ou
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Correspondence to Paweł Stankiewicz.

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Ou, Z., Jarmuż, M., Sparagana, S.P. et al. Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations. Hum Genet 120, 227–237 (2006). https://doi.org/10.1007/s00439-006-0200-7

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