Terry R B, Archer S, Brooks S, Bernoco D, Bailey E
Department of Biology, University of Tampa, Tampa, FL 33606, USA.
Anim Genet. 2004 Apr;35(2):134-7. doi: 10.1111/j.1365-2052.2004.01113.x.
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.
一个常染色体显性位点，豹斑复合体（LP）控制着马的阿帕卢萨色斑模式的出现。LP的致病基因尚不清楚。本研究旨在对马的LP进行定位。利用两个在LP位点分离且共有47个后代的父系半同胞家系进行全基因组扫描，将LP定位到马的1号染色体（ECA1）上。LP与ASB08（在θ = 0.02时LOD = 9.99）和AHT21（在θ = 0.14时LOD = 5.03）连锁。为了细化LP的图谱位置，在两个半同胞家系中分析了ECA1上的8个微卫星标记（UM041、LEX77、1CA41、TKY374、COR046、1CA32、1CA43和TKY002）。该连锁分析结果表明LP位于ASB08和1CA43之间的区间。位于ECA1上LP区间内的紧密连接蛋白（TJP1）被用于确定人类（HSA15）和小鼠（小鼠7号染色体）中的同源染色体。我们提出粉红眼稀释（p）基因和瞬时受体电位阳离子通道亚家族M成员1（TRPM1）是LP的位置候选基因。
