RSPO2基因与奇华华的双边前面美丽相关
Lucie Chevallier1, Marin Green2, Julia Vo2
1INSERM, UPEC, Ecole Nationale Vétérinaire d'Alfort, U955 - IMRB, Team 10 - Biology of the Neuromuscular System, Maisons-Alfort, France.
概括
研究人员确定了与双边前美丽症 (BAA) 相关的遗传变异,这是奇华华的四肢形. 这一发现有助于开发基因测试,以预防狗的疾病.
科学领域:
- 狗的遗传学 狗的遗传学
- 发育生物学是发展生物学.
- 兽医医学 兽医医学 兽医医学
背景情况:
- 双边前美丽症 (BAA) 是一种Chihuahua的自体衰退性疾病,其特点是胸部四肢的先天性缺失.
- 以前的研究将肢体缺失与人类和牛RSPO2基因的功能丧失变异联系在一起.
- 在奇华华州的一项全基因组关联研究 (GWAS) 确定了13号染色体上的显著关联.
研究的目的:
- 为了识别导致奇华华的双边前面美丽病 (BAA) 的遗传变异.
- 研究RSPO2基因在狗肢体发育中的作用.
- 为了促进基因测试BAA在奇华华.
主要方法:
- 全基因组关联研究 (GWAS) 和同卵性映射在受影响的奇华华身上进行.
- 全基因组测序 (WGS) 在6只受影响的狗身上进行,以确定单核酸变异 (SNV),小插入/删除 (indels) 和结构变异.
- 在关键间隔内的候选变异在额外的病例和对照犬中被基因型化.
主要成果:
- 鉴定出13号染色体上的2.1 Mb染色体区域含有RSPO2基因.
- 三种新型SNV在大多数BAA受影响的奇华豪犬中被发现是同卵性,在对照基因组中不存在.
- 一个SNV位于RSPO2基因的第二个内子内,而另外两个是基因间的.
结论:
- 鉴定到的遗传变异与奇华华的双边前面阿美利亚 (BAA) 有着强烈的联系.
- 这些发现增强了对哺乳动物肢体发育中的RSPO2基因功能的理解.
- 这项研究为基因测试提供了基础,以防止在奇瓦瓦品种中出现BAA.
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