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Science 30 September 1988:
Vol. 241. no. 4874, pp. 1797 - 1800
DOI: 10.1126/science.3175621
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Articles

Science, Vol 241, Issue 4874, 1797-1800
Copyright © 1988 by American Association for the Advancement of Science

articles

Identification of germline and somatic mutations affecting the retinoblastoma gene

JM Dunn, RA Phillips, AJ Becker, and BL Gallie

Hospital for Sick Children, Research Institute, Toronto, Canada.

Retinoblastoma (RB) is a malignant tumor of developing retina that arises when abnormalities resulting in loss of function affect both alleles of the gene at the retinoblastoma locus (RB1) on chromosome 13q. The majority of RB tumors do not show gross alterations in a 4.7-kb fragment (4.7R), which is a candidate RB1 gene. To search for more subtle mutations, the ribonuclease protection method was used to analyze 4.7R messenger RNA from RB tumors. Five of 11 RB tumors, which exhibit normal 4.7R DNA and normal-sized RNA transcripts, showed abnormal ribonuclease cleavage patterns. Three of the five mutations affected the same region of the messenger RNA, consistent with an effect on splicing involving an as yet unidentified 5' exon. The high frequency of mutations in 4.7R supports the identification of 4.7R as the RB1 gene. However, the unusual nature of some of the abnormalities of 4.7 R alleles indicates that the accepted sequence of genetic events involved in the genesis of RB may require reevaluation.


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