Isolation of a candidate gene for Norrie disease by positional cloning

W. Berger; A. Meindl; T. J. van de Pol; F. P. Cremers; H. H. Ropers; C. Döerner; A. Monaco; A. A. Bergen; R. Lebo; M. Warburg

doi:https://doi.org/10.1038/ng0692-199

Isolation of a candidate gene for Norrie disease by positional cloning

W. Berger, A. Meindl, T. J. van de Pol, F. P. Cremers, H. H. Ropers, C. Döerner, A. Monaco, A. A. Bergen, R. Lebo, M. Warburg

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Abstract

The gene for Norrie disease, an X-linked disorder characterized by progressive atrophy of the eyes, mental disturbances and deafness, has been mapped to chromosome Xp11.4 close to DXS7 and the monoamine oxidase (MAO) genes. By subcloning a YAC with a 640 kilobases (kb) insert which spans the DXS7-MAOB interval we have generated a cosmid contig which extends 250 kb beyond the MAOB gene. With one of these cosmids, microdeletions were detected in several patients with Norrie disease. Screening of cDNA libraries has enabled us to isolate and sequence a likely candidate gene for Norrie disease which is expressed in retina, choroid and fetal brain. No homologous sequences were found in DNA and protein databases indicating that this cDNA is part of a gene encoding a 'pioneer' protein

Original language	English
Pages (from-to)	199-203
Journal	Nature Genetics
Volume	1
Issue number	3
DOIs	https://doi.org/10.1038/ng0692-199
Publication status	Published - 1992

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https://doi.org/10.1038/ng0692-199

Cite this

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title = "Isolation of a candidate gene for Norrie disease by positional cloning",

abstract = "The gene for Norrie disease, an X-linked disorder characterized by progressive atrophy of the eyes, mental disturbances and deafness, has been mapped to chromosome Xp11.4 close to DXS7 and the monoamine oxidase (MAO) genes. By subcloning a YAC with a 640 kilobases (kb) insert which spans the DXS7-MAOB interval we have generated a cosmid contig which extends 250 kb beyond the MAOB gene. With one of these cosmids, microdeletions were detected in several patients with Norrie disease. Screening of cDNA libraries has enabled us to isolate and sequence a likely candidate gene for Norrie disease which is expressed in retina, choroid and fetal brain. No homologous sequences were found in DNA and protein databases indicating that this cDNA is part of a gene encoding a 'pioneer' protein",

author = "W. Berger and A. Meindl and {van de Pol}, {T. J.} and Cremers, {F. P.} and Ropers, {H. H.} and C. D{\"o}erner and A. Monaco and Bergen, {A. A.} and R. Lebo and M. Warburg",

year = "1992",

doi = "https://doi.org/10.1038/ng0692-199",

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T1 - Isolation of a candidate gene for Norrie disease by positional cloning

AU - Berger, W.

AU - Meindl, A.

AU - van de Pol, T. J.

AU - Cremers, F. P.

AU - Ropers, H. H.

AU - Döerner, C.

AU - Monaco, A.

AU - Bergen, A. A.

AU - Lebo, R.

AU - Warburg, M.

PY - 1992

Y1 - 1992

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AB - The gene for Norrie disease, an X-linked disorder characterized by progressive atrophy of the eyes, mental disturbances and deafness, has been mapped to chromosome Xp11.4 close to DXS7 and the monoamine oxidase (MAO) genes. By subcloning a YAC with a 640 kilobases (kb) insert which spans the DXS7-MAOB interval we have generated a cosmid contig which extends 250 kb beyond the MAOB gene. With one of these cosmids, microdeletions were detected in several patients with Norrie disease. Screening of cDNA libraries has enabled us to isolate and sequence a likely candidate gene for Norrie disease which is expressed in retina, choroid and fetal brain. No homologous sequences were found in DNA and protein databases indicating that this cDNA is part of a gene encoding a 'pioneer' protein

U2 - https://doi.org/10.1038/ng0692-199

DO - https://doi.org/10.1038/ng0692-199

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