A LINE-1 insertion situated in the promoter of IMPG2 is associated with autosomal recessive progressive retinal atrophy in Lhasa Apso dogs

Rebekkah J. Hitti-Malin; Louise M. Burmeister; Sally L. Ricketts; Thomas W. Lewis; Louise Pettitt; Mike Boursnell; Ellen C. Schofield; David Sargan; Cathryn S. Mellersh

doi:10.1186/s12863-020-00911-w

A LINE-1 insertion situated in the promoter of IMPG2 is associated with autosomal recessive progressive retinal atrophy in Lhasa Apso dogs

Rebekkah J. Hitti-Malin, Louise M. Burmeister, Sally L. Ricketts, Thomas W. Lewis, Louise Pettitt, Mike Boursnell, Ellen C. Schofield, David Sargan, Cathryn S. Mellersh

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Abstract

Canine progressive retinal atrophies are a group of hereditary retinal degenerations in dogs characterised by depletion of photoreceptor cells in the retina, which ultimately leads to blindness. PRA in the Lhasa Apso (LA) dog has not previously been clinically characterised or described in the literature, but owners in the UK are advised to have their dog examined through the British Veterinary Association/ Kennel Club/ International Sheep Dog Society (BVA/KC/ISDS) eye scheme annually, and similar schemes that are in operation in other countries. After the exclusion of 25 previously reported canine retinal mutations in LA PRA-affected dogs, we sought to identify the genetic cause of PRA in this breed.

Original language	English
Journal	BMC Genetics
Volume	21
Issue number	1
DOIs	https://doi.org/10.1186/s12863-020-00911-w
Publication status	Published - 7 Sept 2020

Keywords / Materials (for Non-textual outputs)

PRA
Canine
Canine retinal degeneration
Dog
IMPG2
Inherited
Photoreceptor degeneration
Progressive retinal atrophy

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Cite this

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title = "A LINE-1 insertion situated in the promoter of IMPG2 is associated with autosomal recessive progressive retinal atrophy in Lhasa Apso dogs",

abstract = "Canine progressive retinal atrophies are a group of hereditary retinal degenerations in dogs characterised by depletion of photoreceptor cells in the retina, which ultimately leads to blindness. PRA in the Lhasa Apso (LA) dog has not previously been clinically characterised or described in the literature, but owners in the UK are advised to have their dog examined through the British Veterinary Association/ Kennel Club/ International Sheep Dog Society (BVA/KC/ISDS) eye scheme annually, and similar schemes that are in operation in other countries. After the exclusion of 25 previously reported canine retinal mutations in LA PRA-affected dogs, we sought to identify the genetic cause of PRA in this breed.",

keywords = "PRA, Canine, Canine retinal degeneration, Dog, IMPG2, Inherited, Photoreceptor degeneration, Progressive retinal atrophy",

author = "Hitti-Malin, {Rebekkah J.} and Burmeister, {Louise M.} and Ricketts, {Sally L.} and Lewis, {Thomas W.} and Louise Pettitt and Mike Boursnell and Schofield, {Ellen C.} and David Sargan and Mellersh, {Cathryn S.}",

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doi = "10.1186/s12863-020-00911-w",

language = "English",

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T1 - A LINE-1 insertion situated in the promoter of IMPG2 is associated with autosomal recessive progressive retinal atrophy in Lhasa Apso dogs

AU - Hitti-Malin, Rebekkah J.

AU - Burmeister, Louise M.

AU - Ricketts, Sally L.

AU - Lewis, Thomas W.

AU - Pettitt, Louise

AU - Boursnell, Mike

AU - Schofield, Ellen C.

AU - Sargan, David

AU - Mellersh, Cathryn S.

PY - 2020/9/7

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N2 - Canine progressive retinal atrophies are a group of hereditary retinal degenerations in dogs characterised by depletion of photoreceptor cells in the retina, which ultimately leads to blindness. PRA in the Lhasa Apso (LA) dog has not previously been clinically characterised or described in the literature, but owners in the UK are advised to have their dog examined through the British Veterinary Association/ Kennel Club/ International Sheep Dog Society (BVA/KC/ISDS) eye scheme annually, and similar schemes that are in operation in other countries. After the exclusion of 25 previously reported canine retinal mutations in LA PRA-affected dogs, we sought to identify the genetic cause of PRA in this breed.

AB - Canine progressive retinal atrophies are a group of hereditary retinal degenerations in dogs characterised by depletion of photoreceptor cells in the retina, which ultimately leads to blindness. PRA in the Lhasa Apso (LA) dog has not previously been clinically characterised or described in the literature, but owners in the UK are advised to have their dog examined through the British Veterinary Association/ Kennel Club/ International Sheep Dog Society (BVA/KC/ISDS) eye scheme annually, and similar schemes that are in operation in other countries. After the exclusion of 25 previously reported canine retinal mutations in LA PRA-affected dogs, we sought to identify the genetic cause of PRA in this breed.

KW - PRA

KW - Canine

KW - Canine retinal degeneration

KW - Dog

KW - IMPG2

KW - Inherited

KW - Photoreceptor degeneration

KW - Progressive retinal atrophy

U2 - 10.1186/s12863-020-00911-w

DO - 10.1186/s12863-020-00911-w

M3 - Article

SN - 1471-2156

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JO - BMC Genetics

JF - BMC Genetics

IS - 1

ER -

A LINE-1 insertion situated in the promoter of IMPG2 is associated with autosomal recessive progressive retinal atrophy in Lhasa Apso dogs

Abstract

Keywords / Materials (for Non-textual outputs)

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