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

doi:10.1006/geno.1998.5390

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 journal › Article › peer-review

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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 6.19cR_10,000. 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 language	English (US)
Pages (from-to)	325-331
Number of pages	7
Journal	Genomics
Volume	51
Issue number	3
DOIs	https://doi.org/10.1006/geno.1998.5390
State	Published - Aug 1 1998
Externally published	Yes

ASJC Scopus subject areas

Genetics

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1006/geno.1998.5390

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@article{0685ae579e4746bc913866c59b4f9424,

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

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.",

author = "Bernd Wissinger and Herbert J{\"a}gle and Susanne Kohl and Martina Broghammer and Britta Baumann and Hanna, {David B.} and Christian Hedels and Eckhard Apfelstedt-Sylla and Giorgio Randazzo and Jacobson, {Samuel G.} and Eberhart Zrenner and Sharpe, {Lindsay T.}",

note = "Funding Information: We thank all families for participating in this study, and we thank Drs. Maria Vadal{\`a} and Mario Anastasi, Palermo, for referring patients. This work was supported by a grant from the Bundesministerium f{\"u}r Bildung, Wissenschaft, Forschung und Technologie (01 KS 9602) to B.W. and L.T.S. and in part by grants from the National Institutes of Health (EY05627) and the Foundation Fighting Blindness to S.G.J.",

year = "1998",

month = aug,

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doi = "10.1006/geno.1998.5390",

language = "English (US)",

volume = "51",

pages = "325--331",

journal = "Genomics",

issn = "0888-7543",

publisher = "Academic Press Inc.",

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TY - JOUR

T1 - Human rod monochromacy

T2 - Linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11

AU - Wissinger, Bernd

AU - Jägle, Herbert

AU - Kohl, Susanne

AU - Broghammer, Martina

AU - Baumann, Britta

AU - Hanna, David B.

AU - Hedels, Christian

AU - Apfelstedt-Sylla, Eckhard

AU - Randazzo, Giorgio

AU - Jacobson, Samuel G.

AU - Zrenner, Eberhart

AU - Sharpe, Lindsay T.

N1 - Funding Information: We thank all families for participating in this study, and we thank Drs. Maria Vadalà and Mario Anastasi, Palermo, for referring patients. This work was supported by a grant from the Bundesministerium für Bildung, Wissenschaft, Forschung und Technologie (01 KS 9602) to B.W. and L.T.S. and in part by grants from the National Institutes of Health (EY05627) and the Foundation Fighting Blindness to S.G.J.

PY - 1998/8/1

Y1 - 1998/8/1

N2 - 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.

AB - 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.

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VL - 51

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

Abstract

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UN SDGs

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