猪的Belt突变是显性白色（I/KIT）基因座上的一个等位基因。

The Belt mutation in pigs is an allele at the Dominant white (I/KIT) locus.

作者信息

Giuffra E, Evans G, Törnsten A, Wales R, Day A, Looft H, Plastow G, Andersson L

机构信息

Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala Biomedical Centre, Box 597, S-751 24 Uppsala, Sweden.

出版信息

Mamm Genome. 1999 Dec;10(12):1132-6. doi: 10.1007/s003359901178.

DOI:10.1007/s003359901178

PMID:10594235

Abstract

A white belt is a common coat color phenotype in pigs and is determined by a dominant allele (Be). Here we present the result of a genome scan performed using a Hampshire (Belt)/Pietrain (non-Belt) backcross segregating for the white belt trait. We demonstrate that Belt maps to the centromeric region of pig Chromosome (Chr) 8 harboring the Dominant white (I/KIT) locus. Complete cosegregation between Belt and a single nucleotide polymorphism in the KIT gene was observed. Another potential candidate gene, the endothelin receptor type A gene (EDNRA), was excluded as it was assigned to a different region (SSC8q21) by FISH analysis. We argue that Belt is a regulatory KIT mutation on the basis of comparative data on mouse KIT mutants and our previous sequence analysis of the KIT coding sequence from a Hampshire pig. Quantitative PCR analysis revealed that Belt is not associated with a KIT duplication, as is the case for the Patch and Dominant white alleles. Thus, Belt is a fourth allele at the Dominant white locus, and we suggest that it is denoted I(Be).

摘要

白腰带是猪常见的毛色表型，由显性等位基因（Be）决定。在此，我们展示了使用汉普夏（带白腰带）/皮特兰（不带白腰带）回交群体进行基因组扫描的结果，该群体针对白腰带性状进行分离。我们证明白腰带基因定位于猪8号染色体着丝粒区域，该区域含有显性白色（I/KIT）基因座。观察到白腰带基因与KIT基因中的一个单核苷酸多态性完全共分离。另一个潜在候选基因，A型内皮素受体基因（EDNRA），通过荧光原位杂交分析被排除，因为它被定位到了不同区域（SSC8q21）。基于小鼠KIT突变体的比较数据以及我们之前对汉普夏猪KIT编码序列的分析，我们认为白腰带是一种KIT调控突变。定量PCR分析表明，与斑块和显性白色等位基因的情况不同，白腰带与KIT基因重复无关。因此，白腰带是显性白色基因座的第四个等位基因，我们建议将其命名为I(Be)。