在Celestial品种和某些具有主导蓝眼睛的猫类繁殖系中插入PAX3
Marie Abitbol1,2, Alice Couronné1, Caroline Dufaure de Citres3
1Univ Lyon, VetAgro Sup, Marcy-l'Etoile, France.
Animal genetics
|April 22, 2024
概括
一项遗传研究确定了PAX3基因中特定的逆转录病毒插入,该基因负责天猫中占主导地位的蓝眼睛和最小的白斑特征. 这一发现提供了对猫毛颜色遗传学和品种发展的见解.
科学领域:
- 遗传学 遗传学 是一个
- 动物育种 动物育种
- 分子生物学分子生物学
背景情况:
- 60多年来,通过选择遗传特征来开发家猫品种,从而产生独特的外套和形态表型.
- 微小的白色斑点与蓝色的眼睛被选择性地养,以创造像阿尔泰,托帕兹和天空这样的品种,并引入到已建立的品种中.
研究的目的:
- 确定天猫品种中最小白斑和蓝眼 (主导蓝眼 - DBE) 现型的遗传基础.
- 研究PAX3基因在这种遗传特征中的作用.
主要方法:
- 全基因组关联研究 (GWAS) 定位与DBE表型相关的遗传区域.
- 全基因组测序,以确定已识别区域内的致病变异.
- 基因型鉴定以确认感染和未感染猫的确诊变异的存在和分离.
主要成果:
- 一项全基因组关联研究确定了染色体C1上的一个区域,与最小的白斑和蓝眼表型相关.
- 整个基因组测序显示,在所有受影响的天猫中,PAX3基因的内突4中存在内源性逆转录病毒LTR插入.
- 这种插入 (NC_018730.3:g.206974029_206974030insN[395]) 与占主导地位的蓝眼特征分离,并且在未受影响的猫中不存在.
结论:
- 在PAX3基因中发现的LTR插入被提出为天主蓝眼 (DBE) 异位基因的致病变体.
- 这种遗传变异解释了天猫中最少的白斑和蓝眼睛的主导遗传.
- 这些发现有助于理解猫毛的遗传学和特定品种特征的发展.
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