Human rod monochromacy: Linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11

Bernd Wissinger, Herbert Jägle, Susanne Kohl, Martina Broghammer, Britta Baumann, David B. Hanna, Christian Hedels, Eckhard Apfelstedt-Sylla, Giorgio Randazzo, Samuel G. Jacobson, Eberhart Zrenner, Lindsay T. Sharpe

Research output: Contribution to journalArticlepeer-review

54 Scopus citations

Abstract

We have performed linkage analysis in eight families with rod monochromacy, an autosomal recessively inherited condition with complete color blindness. Significant linkage was found with markers located at the pericentromeric region of chromosome 2. A maximum lod score of 5.36 was obtained for marker D2S2333 at θ= 0.00. Mapping of meiotic breakpoints localized the disease gene between markers D2S2187 and D2S2229. Homozygosity for a number of subsequent markers indicating identity by descent was found in two families and provides evidence for a further refinement of the locus proximal to D2S373. This defines an interval of ≃3 cM covering the ACHM2 locus for rod monochromacy. Radiation hybrid mapping of the CNGA3 gene encoding the α-subunit of the cGMP gated cation channel in human cone photoreceptors resulted in a maximum lod score of 16.1 with marker D2S2311 combined with a calculated physical distance of 6.19cR10,000. Screening of the CEPH YAC library and subsequent STS mapping indicated the physical order cen-D2S2222-D2S2175-(D2S2187/D2S2311)-qtel of markers on 2q11 and showed that the CNGA3 gene maps most closely to D2S2187 and D2S2311. These data indicate that the CNGA3 gene maps within the critical interval of the ACHM2 locus for rod monochromacy and thus is a candidate gene for this disease.

Original languageEnglish (US)
Pages (from-to)325-331
Number of pages7
JournalGenomics
Volume51
Issue number3
DOIs
StatePublished - Aug 1 1998

ASJC Scopus subject areas

  • Genetics

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