Assignment of the appaloosa coat colour gene (LP) to equine chromosome 1.
Abstract: A single autosomal dominant locus, leopard complex (LP) controls the presence of appaloosa pigmentation patterns in the horse. The causative gene for LP is unknown. This study was undertaken to map LP in the horse. Two paternal half sib families segregating for the LP locus and including a total of 47 offspring were used to perform a genome scan which localized LP to horse chromosome 1 (ECA1). LP was linked to ASB08 (LOD = 9.99 at Theta = 0.02) and AHT21 (LOD = 5.03 at Theta = 0.14). To refine the map position of LP, eight microsatellite markers on ECA1 (UM041, LEX77, 1CA41, TKY374, COR046, 1CA32, 1CA43, and TKY002) were analysed in the two half sib families. Results from this linkage analysis showed LP was located in the interval between ASB08 and 1CA43. Tight junction protein (TJP1), which lies within the LP interval on ECA1, was used to determine the homologous chromosomes in humans (HSA15) and mice (mouse chromosome 7). We propose that the pink eyed dilution (p) gene and transient receptor potential cation channel subfamily M, member 1 (TRPM1) are positional candidate genes for LP.
Publication Date: 2004-03-18 PubMed ID: 15025575DOI: 10.1111/j.1365-2052.2004.01113.xGoogle Scholar: Lookup
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- Comparative Study
- Journal Article
- Research Support
- Non-U.S. Gov't
Summary
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The research article discusses how the gene responsible for the Appaloosa pigmentation patterns in horses (leopard complex or LP) is located on equine chromosome 1. The paper uses genome scan and linkage analysis to identify potential candidate genes for LP.
Understanding the Appaloosa Pigmentation Pattern
- The data is based on studying two paternal half sib families of horses, which include a total of 47 offspring, showing the Leopard Complex (LP) pigmentation patterns, commonly seen in the Appaloosa breed.
- The gene causing this LP is currently unknown, hence, the goal of the study was to map LP in horses.
- The LP pigmentation pattern is controlled by a dominant locus presenting on one of the autosomal chromosomes, meaning that an offspring only needs to inherit one copy of this gene to display the pattern.
Mechanics of the Genome Scan
- The genome scan helped scientists localise LP to horse chromosome 1 (ECA1).
- The researchers linked LP to the markers ASB08 and AHT21, which are specific DNA sequences that are found at particular regions on chromosomes.
- The Linkage of Determination (LOD) scores, 9.99 for ASB08 and 5.03 for AHT21, indicate a strong relationship between these markers and the presence of the LP gene.
Refining the Map Position of LP
- Researchers then further narrowed down the location of LP using eight microsatellite markers on ECA1 and performed a more detailed linkage analysis.
- The result of this analysis showed LP was located in the interval between markers ASB08 and 1CA43.
Identification of Candidate Genes
- The gene known as tight junction protein (TJP1), which resides within the identified LP interval on ECA1, was used to establish corresponding chromosomes in humans (HSA15) and mice (chromosome 7).
- After this comparative process, the researchers proposed the pink-eyed dilution (p) gene and transient receptor potential cation channel subfamily M, member 1 (TRPM1) as potential candidate genes for LP.
Summing Up
- The study has successfully attempted to map the LP gene in horses and it has identified potential candidate genes.
- However, more thorough investigation and experimental validation will be needed to conclusively identify the gene responsible for the appaloosa coat colour in horses.
Cite This Article
APA
Terry RB, Archer S, Brooks S, Bernoco D, Bailey E.
(2004).
Assignment of the appaloosa coat colour gene (LP) to equine chromosome 1.
Anim Genet, 35(2), 134-137.
https://doi.org/10.1111/j.1365-2052.2004.01113.x Publication
Researcher Affiliations
- Department of Biology, University of Tampa, Tampa, FL 33606, USA. rterry@ut.edu
MeSH Terms
- Animals
- Chromosome Mapping
- Genes, Dominant / genetics
- Hair / physiology
- Haplotypes / genetics
- Horses / genetics
- Horses / physiology
- Microsatellite Repeats / genetics
- Pigmentation / genetics
Citations
This article has been cited 12 times.- He Z, Dai X, Lyu W, Beaumont M, Yu F. Estimating Temporally Variable Selection Intensity from Ancient DNA Data.. Mol Biol Evol 2023 Mar 4;40(3).
- Voß K, Tetens J, Thaller G, Becker D. Coat Color Roan Shows Association with KIT Variants and No Evidence of Lethality in Icelandic Horses.. Genes (Basel) 2020 Jun 22;11(6).
- Raudsepp T, Finno CJ, Bellone RR, Petersen JL. Ten years of the horse reference genome: insights into equine biology, domestication and population dynamics in the post-genome era.. Anim Genet 2019 Dec;50(6):569-597.
- Ludwig A, Reissmann M, Benecke N, Bellone R, Sandoval-Castellanos E, Cieslak M, Fortes GG, Morales-Muñiz A, Hofreiter M, Pruvost M. Twenty-five thousand years of fluctuating selection on leopard complex spotting and congenital night blindness in horses.. Philos Trans R Soc Lond B Biol Sci 2015 Jan 19;370(1660):20130386.
- Neuillé M, El Shamieh S, Orhan E, Michiels C, Antonio A, Lancelot ME, Condroyer C, Bujakowska K, Poch O, Sahel JA, Audo I, Zeitz C. Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB).. PLoS One 2014;9(3):e90342.
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- Petersen JL, Mickelson JR, Rendahl AK, Valberg SJ, Andersson LS, Axelsson J, Bailey E, Bannasch D, Binns MM, Borges AS, Brama P, da Câmara Machado A, Capomaccio S, Cappelli K, Cothran EG, Distl O, Fox-Clipsham L, Graves KT, Guérin G, Haase B, Hasegawa T, Hemmann K, Hill EW, Leeb T, Lindgren G, Lohi H, Lopes MS, McGivney BA, Mikko S, Orr N, Penedo MC, Piercy RJ, Raekallio M, Rieder S, Røed KH, Swinburne J, Tozaki T, Vaudin M, Wade CM, McCue ME. Genome-wide analysis reveals selection for important traits in domestic horse breeds.. PLoS Genet 2013;9(1):e1003211.
- Pruvost M, Bellone R, Benecke N, Sandoval-Castellanos E, Cieslak M, Kuznetsova T, Morales-Muñiz A, O'Connor T, Reissmann M, Hofreiter M, Ludwig A. Genotypes of predomestic horses match phenotypes painted in Paleolithic works of cave art.. Proc Natl Acad Sci U S A 2011 Nov 15;108(46):18626-30.
- Bellone RR, Brooks SA, Sandmeyer L, Murphy BA, Forsyth G, Archer S, Bailey E, Grahn B. Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the Appaloosa horse (Equus caballus).. Genetics 2008 Aug;179(4):1861-70.
- Chowdhary BP, Raudsepp T. The horse genome derby: racing from map to whole genome sequence.. Chromosome Res 2008;16(1):109-27.
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- Brooks SA, Bailey E. Exon skipping in the KIT gene causes a Sabino spotting pattern in horses.. Mamm Genome 2005 Nov;16(11):893-902.
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