Zebrafish Rpgr is required for normal retinal development and plays a role in dynein-based retrograde transport process

Xinhua Shu; Zhiqiang Zeng; Philippe Gautier; Alan Lennon; Milica Gakovic; Elizabeth Patton; Alan F. Wright

doi:10.1093/hmg/ddp533

Zebrafish Rpgr is required for normal retinal development and plays a role in dynein-based retrograde transport process

Xinhua Shu, Zhiqiang Zeng, Philippe Gautier, Alan Lennon, Milica Gakovic, Elizabeth Patton, Alan F. Wright

Biological and Biomedical Sciences

Research output: Contribution to journal › Article

Abstract

Mutations in the human RPGR gene cause one of the most common and severe forms of inherited retinal dystrophy, but the function of its protein product remains unclear. We have identified two genes resembling human RPGR (ZFRPGR1, ZFRPGR2) in zebrafish (Danio rerio), both of which are expressed within the nascent and adult eye as well as more widely during development. ZFRPGR2 appears to be functionally orthologous to human RPGR, because it encodes similar protein isoforms (ZFRPGR2ORF15, ZFRPGR2ex1-17) and causes developmental defects similar to other ciliary proteins, affecting gastrulation, tail and head development after morpholino-induced knockdown (translation suppression). These defects are consistent with a ciliary function and were rescued by human RPGR but not by RPGR mutants causing retinal dystrophy.

Original language	English
Pages (from-to)	657-670
Number of pages	14
Journal	Human Molecular Genetics
Volume	19
Issue number	4
DOIs	https://doi.org/10.1093/hmg/ddp533
Publication status	Published - 2010

Keywords

genetics
zebrafish
inherited retinal dystrophy

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10.1093/hmg/ddp533

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Shu, X., Zeng, Z., Gautier, P., Lennon, A., Gakovic, M., Patton, E., & Wright, A. F. (2010). Zebrafish Rpgr is required for normal retinal development and plays a role in dynein-based retrograde transport process. Human Molecular Genetics, 19(4), 657-670. https://doi.org/10.1093/hmg/ddp533

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title = "Zebrafish Rpgr is required for normal retinal development and plays a role in dynein-based retrograde transport process",

abstract = "Mutations in the human RPGR gene cause one of the most common and severe forms of inherited retinal dystrophy, but the function of its protein product remains unclear. We have identified two genes resembling human RPGR (ZFRPGR1, ZFRPGR2) in zebrafish (Danio rerio), both of which are expressed within the nascent and adult eye as well as more widely during development. ZFRPGR2 appears to be functionally orthologous to human RPGR, because it encodes similar protein isoforms (ZFRPGR2ORF15, ZFRPGR2ex1-17) and causes developmental defects similar to other ciliary proteins, affecting gastrulation, tail and head development after morpholino-induced knockdown (translation suppression). These defects are consistent with a ciliary function and were rescued by human RPGR but not by RPGR mutants causing retinal dystrophy.",

keywords = "genetics, zebrafish, inherited retinal dystrophy",

author = "Xinhua Shu and Zhiqiang Zeng and Philippe Gautier and Alan Lennon and Milica Gakovic and Elizabeth Patton and Wright, {Alan F.}",

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T1 - Zebrafish Rpgr is required for normal retinal development and plays a role in dynein-based retrograde transport process

AU - Shu, Xinhua

AU - Zeng, Zhiqiang

AU - Gautier, Philippe

AU - Lennon, Alan

AU - Gakovic, Milica

AU - Patton, Elizabeth

AU - Wright, Alan F.

N1 - Originally published in: Human Molecular Genetics (2010), 19, (4), pp.657-670.

PY - 2010

Y1 - 2010

N2 - Mutations in the human RPGR gene cause one of the most common and severe forms of inherited retinal dystrophy, but the function of its protein product remains unclear. We have identified two genes resembling human RPGR (ZFRPGR1, ZFRPGR2) in zebrafish (Danio rerio), both of which are expressed within the nascent and adult eye as well as more widely during development. ZFRPGR2 appears to be functionally orthologous to human RPGR, because it encodes similar protein isoforms (ZFRPGR2ORF15, ZFRPGR2ex1-17) and causes developmental defects similar to other ciliary proteins, affecting gastrulation, tail and head development after morpholino-induced knockdown (translation suppression). These defects are consistent with a ciliary function and were rescued by human RPGR but not by RPGR mutants causing retinal dystrophy.

AB - Mutations in the human RPGR gene cause one of the most common and severe forms of inherited retinal dystrophy, but the function of its protein product remains unclear. We have identified two genes resembling human RPGR (ZFRPGR1, ZFRPGR2) in zebrafish (Danio rerio), both of which are expressed within the nascent and adult eye as well as more widely during development. ZFRPGR2 appears to be functionally orthologous to human RPGR, because it encodes similar protein isoforms (ZFRPGR2ORF15, ZFRPGR2ex1-17) and causes developmental defects similar to other ciliary proteins, affecting gastrulation, tail and head development after morpholino-induced knockdown (translation suppression). These defects are consistent with a ciliary function and were rescued by human RPGR but not by RPGR mutants causing retinal dystrophy.

KW - genetics

KW - zebrafish

KW - inherited retinal dystrophy

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DO - 10.1093/hmg/ddp533

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