Mapping Of A Single Locus Capable Of Complementing The Defective Heterochromatin Phenotype Of RS Cells

Roberts syndrome (RS) is a developmental disorder characterized by tetraphocomelia and a broad spectrum of additional clinical features. The researchers used complementation of this abnormal cytogenetic phenotype as a means to identify a specific region of the normal human genome capable of rendering phenotypic correction. They demonstrated complementation exclusively after the transfer of proximal chromosome 8p, a result subsequently confirmed by stable microcell-mediated chromosome transfer. The results are consistent with the notion that the single gene defect responsible for heterochromatic splaying and developmental abnormalities maps to chromosome 8p21.

Authors:

Lisa D. McDaniel, Errol C. Friedberg, and Roger A. Schultz
Department of Pathology, University of Texas Southwestern Medical Center at Dallas, Dallas.

Darrell J. Tomkins
Departments of Medical Genetics and Pediatrics, University of Alberta, and Darrell J. Tomkins Genetics Consulting, Edmonton, Alberta.

Eric J. Stanbridge
Department of Microbiology and Molecular Genetics, School of Medicine, University of California–Irvine, Irvine.

Martin J. Somerville
Departments of Medical Genetics and Pediatrics, University of Alberta.

Abstract of this article can be accessed here.

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