Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the appaloosa horse (Equus caballus)

Rebecca Bellone, Samantha A. Brooks, Lynne Sandmeyer, Barbara A. Murphy, George Forsyth, Sheila Archer, Ernest Bailey, Bruce Grahn

Research output: Contribution to journalArticle

109 Citations (Scopus)

Abstract

The appaloosa coat spotting pattern in horses is caused by a single incomplete dominant gene (LP). Homozygosity for LP (LP/LP) is directly associated with congenital stationary night blindness (CSNB) in Appaloosa horses. LP maps to a 6-cM region on ECA1. We investigated the relative expression of two functional candidate genes located in this LP candidate region (TRPM1 and OCA2), as well as three other linked loci (TJP1, MTMR10, and OTUD7A) by quantitative real-time RT-PCR. No large differences were found for expression levels of TJP1, MTMR10, OTUD7A, and OCA2. However, TRPM1 (Transient Receptor Potential Cation Channel, Subfamily M, Member 1) expression in the retina of homozygous appaloosa horses was 0.05% the level found in non-appaloosa horses (R = 0.0005). This constitutes a >1800-fold change (FC) decrease in TRPM1 gene expression in the retina (FC = -1870.637, P = 0.001) of CSNB-affected (LP/LP) horses. TRPM1 was also downregulated in LP/LP pigmented skin (R = 0.005, FC = -193.963, P = 0.001) and in LP/LP unpigmented skin (R = 0.003, FC = -288.686, P = 0.001) and was downregulated to a lesser extent in LP/lp unpigmented skin (R = 0.027, FC = -36.583, P = 0.001). TRP proteins are thought to have a role in controlling intracellular Ca2+ concentration. Decreased expression of TRPM1 in the eye and the skin may alter bipolar cell signaling as well as melanocyte function, thus causing both CSNB and LP in horses.

Original languageEnglish (US)
Pages (from-to)1861-1870
Number of pages10
JournalGenetics
Volume179
Issue number4
DOIs
StatePublished - Aug 1 2008
Externally publishedYes

Fingerprint

Metrorrhagia
Horses
Gene Expression
Skin
Retina
Down-Regulation
Transient Receptor Potential Channels
Dominant Genes
Melanocytes
Congenital stationary night blindness
Real-Time Polymerase Chain Reaction
Genes
Proteins

ASJC Scopus subject areas

  • Genetics

Cite this

Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the appaloosa horse (Equus caballus). / Bellone, Rebecca; Brooks, Samantha A.; Sandmeyer, Lynne; Murphy, Barbara A.; Forsyth, George; Archer, Sheila; Bailey, Ernest; Grahn, Bruce.

In: Genetics, Vol. 179, No. 4, 01.08.2008, p. 1861-1870.

Research output: Contribution to journalArticle

Bellone, Rebecca ; Brooks, Samantha A. ; Sandmeyer, Lynne ; Murphy, Barbara A. ; Forsyth, George ; Archer, Sheila ; Bailey, Ernest ; Grahn, Bruce. / Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the appaloosa horse (Equus caballus). In: Genetics. 2008 ; Vol. 179, No. 4. pp. 1861-1870.
@article{f5039a25dbb4430cbfd8b8cf48e299d6,
title = "Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the appaloosa horse (Equus caballus)",
abstract = "The appaloosa coat spotting pattern in horses is caused by a single incomplete dominant gene (LP). Homozygosity for LP (LP/LP) is directly associated with congenital stationary night blindness (CSNB) in Appaloosa horses. LP maps to a 6-cM region on ECA1. We investigated the relative expression of two functional candidate genes located in this LP candidate region (TRPM1 and OCA2), as well as three other linked loci (TJP1, MTMR10, and OTUD7A) by quantitative real-time RT-PCR. No large differences were found for expression levels of TJP1, MTMR10, OTUD7A, and OCA2. However, TRPM1 (Transient Receptor Potential Cation Channel, Subfamily M, Member 1) expression in the retina of homozygous appaloosa horses was 0.05{\%} the level found in non-appaloosa horses (R = 0.0005). This constitutes a >1800-fold change (FC) decrease in TRPM1 gene expression in the retina (FC = -1870.637, P = 0.001) of CSNB-affected (LP/LP) horses. TRPM1 was also downregulated in LP/LP pigmented skin (R = 0.005, FC = -193.963, P = 0.001) and in LP/LP unpigmented skin (R = 0.003, FC = -288.686, P = 0.001) and was downregulated to a lesser extent in LP/lp unpigmented skin (R = 0.027, FC = -36.583, P = 0.001). TRP proteins are thought to have a role in controlling intracellular Ca2+ concentration. Decreased expression of TRPM1 in the eye and the skin may alter bipolar cell signaling as well as melanocyte function, thus causing both CSNB and LP in horses.",
author = "Rebecca Bellone and Brooks, {Samantha A.} and Lynne Sandmeyer and Murphy, {Barbara A.} and George Forsyth and Sheila Archer and Ernest Bailey and Bruce Grahn",
year = "2008",
month = "8",
day = "1",
doi = "10.1534/genetics.108.088807",
language = "English (US)",
volume = "179",
pages = "1861--1870",
journal = "Genetics",
issn = "0016-6731",
publisher = "Genetics Society of America",
number = "4",

}

TY - JOUR

T1 - Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the appaloosa horse (Equus caballus)

AU - Bellone, Rebecca

AU - Brooks, Samantha A.

AU - Sandmeyer, Lynne

AU - Murphy, Barbara A.

AU - Forsyth, George

AU - Archer, Sheila

AU - Bailey, Ernest

AU - Grahn, Bruce

PY - 2008/8/1

Y1 - 2008/8/1

N2 - The appaloosa coat spotting pattern in horses is caused by a single incomplete dominant gene (LP). Homozygosity for LP (LP/LP) is directly associated with congenital stationary night blindness (CSNB) in Appaloosa horses. LP maps to a 6-cM region on ECA1. We investigated the relative expression of two functional candidate genes located in this LP candidate region (TRPM1 and OCA2), as well as three other linked loci (TJP1, MTMR10, and OTUD7A) by quantitative real-time RT-PCR. No large differences were found for expression levels of TJP1, MTMR10, OTUD7A, and OCA2. However, TRPM1 (Transient Receptor Potential Cation Channel, Subfamily M, Member 1) expression in the retina of homozygous appaloosa horses was 0.05% the level found in non-appaloosa horses (R = 0.0005). This constitutes a >1800-fold change (FC) decrease in TRPM1 gene expression in the retina (FC = -1870.637, P = 0.001) of CSNB-affected (LP/LP) horses. TRPM1 was also downregulated in LP/LP pigmented skin (R = 0.005, FC = -193.963, P = 0.001) and in LP/LP unpigmented skin (R = 0.003, FC = -288.686, P = 0.001) and was downregulated to a lesser extent in LP/lp unpigmented skin (R = 0.027, FC = -36.583, P = 0.001). TRP proteins are thought to have a role in controlling intracellular Ca2+ concentration. Decreased expression of TRPM1 in the eye and the skin may alter bipolar cell signaling as well as melanocyte function, thus causing both CSNB and LP in horses.

AB - The appaloosa coat spotting pattern in horses is caused by a single incomplete dominant gene (LP). Homozygosity for LP (LP/LP) is directly associated with congenital stationary night blindness (CSNB) in Appaloosa horses. LP maps to a 6-cM region on ECA1. We investigated the relative expression of two functional candidate genes located in this LP candidate region (TRPM1 and OCA2), as well as three other linked loci (TJP1, MTMR10, and OTUD7A) by quantitative real-time RT-PCR. No large differences were found for expression levels of TJP1, MTMR10, OTUD7A, and OCA2. However, TRPM1 (Transient Receptor Potential Cation Channel, Subfamily M, Member 1) expression in the retina of homozygous appaloosa horses was 0.05% the level found in non-appaloosa horses (R = 0.0005). This constitutes a >1800-fold change (FC) decrease in TRPM1 gene expression in the retina (FC = -1870.637, P = 0.001) of CSNB-affected (LP/LP) horses. TRPM1 was also downregulated in LP/LP pigmented skin (R = 0.005, FC = -193.963, P = 0.001) and in LP/LP unpigmented skin (R = 0.003, FC = -288.686, P = 0.001) and was downregulated to a lesser extent in LP/lp unpigmented skin (R = 0.027, FC = -36.583, P = 0.001). TRP proteins are thought to have a role in controlling intracellular Ca2+ concentration. Decreased expression of TRPM1 in the eye and the skin may alter bipolar cell signaling as well as melanocyte function, thus causing both CSNB and LP in horses.

UR - http://www.scopus.com/inward/record.url?scp=55749100524&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=55749100524&partnerID=8YFLogxK

U2 - 10.1534/genetics.108.088807

DO - 10.1534/genetics.108.088807

M3 - Article

VL - 179

SP - 1861

EP - 1870

JO - Genetics

JF - Genetics

SN - 0016-6731

IS - 4

ER -