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Abstract：
Signature of selection studies have identified many genomic regions with known functional importance and some without verified functional roles. Multiple studies have identified Transmembrane protein 8B (TMEM8B)rs426272889 as having been recently under extreme selection pressure in domesticated sheep, but no study has provided sheep phenotypic data clarifying a reason for extreme selection. We tested rs426272889 for production trait association in 770 U.S. Rambouillet, Targhee, Polypay, and Suffolk sheep. TMEM8Brs426272889 was associated with mature weight at 3 and 4 years (p < 0.05). This suggested selection for sheep growth and body size might explain the historical extreme selection pressure in this genomic region. We also tested Sperm-associated antigen 8 (SPAG8) rs160159557 encoding a G493C substitution. While this variant was associated with mature weights at ages 3 and 4, it was not as strongly associated as TMEM8Brs426272889. Transmembrane protein 8B has little functional information except as an inhibitor of cancer cell proliferation. To our knowledge, this is the first study linking TMEM8B to whole organism growth and body size under standard conditions. Additional work will be necessary to identify the underlying functional variant(s). Once identified, such variants could be used to improve sheep production through selective breeding.
摘要：
选择研究的签名已经鉴定了许多具有已知功能重要性的基因组区域,并且一些没有验证的功能作用。多项研究已经确定跨膜蛋白8B（TMEM8B）rs426272889最近在驯化绵羊中处于极端选择压力下，但是没有研究提供绵羊表型数据来阐明极端选择的原因。我们在770美国Rambouillet测试了rs426272889的生产性状关联，塔吉,息肉,萨福克羊TMEM8Brs426272889与3年和4年的成熟体重相关(p<0.05)。这表明对绵羊生长和体型的选择可能解释了该基因组区域历史上极端的选择压力。我们还测试了编码G493C置换的精子相关抗原8(SPAG8)rs160159557。虽然该变体与3岁和4岁时的成熟体重相关，但与TMEM8Brs426272889没有强烈相关。跨膜蛋白8B除了作为癌细胞增殖的抑制剂外几乎没有功能信息。据我们所知,这是第一项在标准条件下将TMEM8B与整个生物体生长和体型联系起来的研究。需要额外的工作来识别潜在的功能变体。一旦确定,这种变体可用于通过选择性育种提高绵羊产量。
