Functional characterization of the human RPGR proximal promoter

Xinhua Shu; Julie R Simpson; Alan W Hart; Zhihong Zeng; Sarita Rani Patnaik; Philippe Gautier; Emma Murdoch; Brian Tulloch; Alan F Wright

doi:10.1167/iovs.11-8811

Functional characterization of the human RPGR proximal promoter

Xinhua Shu, Julie R Simpson, Alan W Hart, Zhihong Zeng, Sarita Rani Patnaik, Philippe Gautier, Emma Murdoch, Brian Tulloch, Alan F Wright

Research output: Contribution to journal › Article › peer-review

Abstract

Mutations in the retinitis pigmentosa (RP) GTPase regulator (RPGR) gene account for more than 70% of X-linked RP cases. This study aims to characterize the proximal promoter region of the human RPGR gene.

Original language	English
Pages (from-to)	3951-8
Number of pages	8
Journal	Investigative Ophthalmology & Visual Science (IOVS)
Volume	53
Issue number	7
DOIs	https://doi.org/10.1167/iovs.11-8811
Publication status	Published - Jun 2012

Keywords

Animals
Retina
Humans
Electrophoretic Mobility Shift Assay
Disease Models, Animal
Mice
Mice, Transgenic
Transcriptional Activation
Guanine Nucleotide Exchange Factors
Regulatory Sequences, Nucleic Acid
Promoter Regions, Genetic
Eye Proteins
Transcription Factors
Retinitis Pigmentosa
Molecular Sequence Data
Gene Expression Regulation
Mutation
Cell Line
Female

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10.1167/iovs.11-8811

http://www.iovs.org/content/53/7/3951

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title = "Functional characterization of the human RPGR proximal promoter",

abstract = "Mutations in the retinitis pigmentosa (RP) GTPase regulator (RPGR) gene account for more than 70% of X-linked RP cases. This study aims to characterize the proximal promoter region of the human RPGR gene.",

keywords = "Animals, Retina, Humans, Electrophoretic Mobility Shift Assay, Disease Models, Animal, Mice, Mice, Transgenic, Transcriptional Activation, Guanine Nucleotide Exchange Factors, Regulatory Sequences, Nucleic Acid, Promoter Regions, Genetic, Eye Proteins, Transcription Factors, Retinitis Pigmentosa, Molecular Sequence Data, Gene Expression Regulation, Mutation, Cell Line, Female",

author = "Xinhua Shu and Simpson, {Julie R} and Hart, {Alan W} and Zhihong Zeng and Patnaik, {Sarita Rani} and Philippe Gautier and Emma Murdoch and Brian Tulloch and Wright, {Alan F}",

year = "2012",

month = jun,

doi = "10.1167/iovs.11-8811",

language = "English",

volume = "53",

pages = "3951--8",

journal = "Investigative Ophthalmology & Visual Science (IOVS)",

issn = "0146-0404",

publisher = "The Association for Research in Vision and Ophthalmology",

number = "7",

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TY - JOUR

T1 - Functional characterization of the human RPGR proximal promoter

AU - Shu, Xinhua

AU - Simpson, Julie R

AU - Hart, Alan W

AU - Zeng, Zhihong

AU - Patnaik, Sarita Rani

AU - Gautier, Philippe

AU - Murdoch, Emma

AU - Tulloch, Brian

AU - Wright, Alan F

PY - 2012/6

Y1 - 2012/6

N2 - Mutations in the retinitis pigmentosa (RP) GTPase regulator (RPGR) gene account for more than 70% of X-linked RP cases. This study aims to characterize the proximal promoter region of the human RPGR gene.

AB - Mutations in the retinitis pigmentosa (RP) GTPase regulator (RPGR) gene account for more than 70% of X-linked RP cases. This study aims to characterize the proximal promoter region of the human RPGR gene.

KW - Animals

KW - Retina

KW - Humans

KW - Electrophoretic Mobility Shift Assay

KW - Disease Models, Animal

KW - Mice

KW - Mice, Transgenic

KW - Transcriptional Activation

KW - Guanine Nucleotide Exchange Factors

KW - Regulatory Sequences, Nucleic Acid

KW - Promoter Regions, Genetic

KW - Eye Proteins

KW - Transcription Factors

KW - Retinitis Pigmentosa

KW - Molecular Sequence Data

KW - Gene Expression Regulation

KW - Mutation

KW - Cell Line

KW - Female

U2 - 10.1167/iovs.11-8811

DO - 10.1167/iovs.11-8811

M3 - Article

C2 - 22577079

VL - 53

SP - 3951

EP - 3958

JO - Investigative Ophthalmology & Visual Science (IOVS)

JF - Investigative Ophthalmology & Visual Science (IOVS)

SN - 0146-0404

IS - 7

ER -

Functional characterization of the human RPGR proximal promoter

Abstract

Keywords

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