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Human Molecular Genetics, 2000, Vol. 9, No. 1 27-34
© 2000 Oxford University Press

A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration

Marion A. Maw+, Denis Corbeil1, Julia Koch1, Andrea Hellwig1, Jane C. Wilson-Wheeler, Robyn J. Bridges, Govindasamy Kumaramanickavel2, Sheila John2, Derek Nancarrow3, Katja Röper1, Anja Weigmann1, Wieland B. Huttner1 and Michael J. Denton

Biochemistry Department, University of Otago, PO Box 56, Dunedin, New Zealand, 1Department of Neurobiology, University of Heidelberg, Im Neuenheimer Feld 364, D-69120, Heidelberg, Germany and Max-Planck-Institute of Molecular Cell Biology and Genetics, Pfotenhauerstrasse 110, D-01307 Dresden, Germany, 2Sankara Nethralaya, Medical Research Foundation, 18 College Road, Chennai, India and 3Queensland Centre for Schizophrenia Research, Wolston Park Hospital, Brisbane, Australia

The disks of vertebrate photoreceptors are produced by outgrowths of the plasma membrane. Hence genes that encode retinal proteins targeted to plasma membrane protrusions represent candidates for inherited retinal degenerations. One such candidate is the gene encoding human prominin (mouse)-like 1 (PROML1, previously known as AC133 antigen) which belongs to the prominin family of 5-transmembrane domain proteins. Murine prominin (prom) shows a strong preference for plasma membrane protrusions in a variety of epithelial cells whereas PROML1 is expressed in retinoblastoma cell lines and adult retina. In the present study, molecular genetic analyses of a pedigree segregating for autosomal recessive retinal degeneration indicated that the affected individuals were homozygous for a nucleotide 1878 deletion in PROML1. This alteration is predicted to result in a frameshift at codon 614 with premature termination of translation. Expression of a similar prom deletion mutant in CHO cells indicated that the truncated protein does not reach the cell surface. Immunocytochemistry revealed that prom is concentrated in the plasma membrane evaginations at the base of the outer segments of rod photoreceptors. These findings suggest that loss of prominin causes retinal degeneration, possibly because of impaired generation of the evaginations and/or impaired conversion of the evaginations to disks.

+ To whom correspondence should be addressed. Tel: +64 3 479 5121; Fax: +64 3 479 7866; Email: marion.maw@stonebow.otago.ac.nz


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