Genetic analysis of twenty-two patients with Cockayne syndrome |
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Authors: | Miria Stefanini Heather Fawcett Elena Botta Tiziana Nardo Alan R Lehmann |
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Institution: | (1) Istituto di Genetica Biochimica ed Evoluzionistica, Consiglio Nazionale delle Ricerche, Via Abbiategrasso, 207, I-27100 Pavia, Italy, Fax: (39) 382- 42 22 86; e-mail: stefanini@ipvgbe.igbe.pv.cnr.it, IT;(2) MRC Cell Mutation Unit, University of Sussex, Falmer, Brighton, UK, GB |
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Abstract: | Cockayne syndrome (CS) is an autosomal recessive disorder with dwarfism, mental retardation, sun sensitivity and a variety
of other features. Cultured CS cells are hypersensitive to ultraviolet (UV) light, and following UV irradiation, CS cells
are unable to restore RNA synthesis rates to normal levels. This has been attributed to a specific deficiency in CS cells
in the ability to repair damage in actively transcribed regions of DNA at the rapid rate seen in normal cells. We have used
the failure of recovery of RNA synthesis, following UV irradiation of CS cells, in a complementation test. Cells of different
CS donors are fused. Restoration of normal RNA synthesis rates in UV-irradiated heterodikaryons indicates that the donors
are in different complementation groups, whereas a failure to effect this recovery implies that they are in the same group.
In an analysis of cell strains from 22 CS donors from several countries and different racial groups, we have assigned five
cell strains to the CS-A group and the remaining 17 to CS-B. No obvious racial, clinical or cellular distinctions could be
made between individuals in the two groups. Our analysis will assist the identification of mutations in the recently cloned
CSA and CSB genes and the study of structure-function relationships.
Received: 19 June 1995 |
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