Tetzlaff S, Chomdej S, Jonas E, Ponsuksili S, Murani E, Phatsara C, Schellander K, Wimmers K
Research Institute for the Biology of Farm Animals, Research Unit Molecular Biology, 18196 Dummerstorf, Germany.
J Anim Breed Genet. 2009 Jun;126(3):237-41. doi: 10.1111/j.1439-0388.2008.00781.x.
Parathyroid hormone-like hormone gene (PTHLH) and its receptor, parathyroid hormone/ parathyroid hormone-like hormone receptor 1 (PTHR1), play a role in epithelial mesenchymal interactions during growth and differentiation of different tissues and anatomic structures, including teats. Therefore, PTHLH and PTHR1 were evaluated as functional candidate genes for their effects on number and shape of teats in pigs. In particular, focus was on the occurrence and number of inverted teats, the most frequent and economically relevant teat developmental defect in pigs. For this purpose, association and linkage of the PTHLH gene and the PTHR1 gene with inverted teat defect and the total number of teats and inverted teats were studied in an experimental Duroc and Berlin Miniature pig (DUMI) population. Polymorphism C1819T of PTHR1 was significantly associated with inverted teat phenotype (p = 0.014), total number of teats (p = 0.047) and was close to significance with the number of inverted teats (p = 0.078). Polymorphism C375T of PTHLH was close to significance with the inverted teat phenotype (p = 0.122) and showed no significant association with the total number of teats (p = 0.621) and the number of inverted teats (p = 0.256) in the DUMI population. Association analyses were also performed for combined effects of PTHLH and PTHR1 in order to address potential interaction, however, revealed no indication of effects of interaction. The function, position and the association shown here promote PTHR1 as a candidate gene for number of teats and in particular for affection by and number of inverted teats.
甲状旁腺激素样激素基因（PTHLH）及其受体甲状旁腺激素/甲状旁腺激素样激素受体1（PTHR1），在包括乳头在内的不同组织和解剖结构的生长与分化过程中的上皮-间充质相互作用中发挥作用。因此，对PTHLH和PTHR1作为影响猪乳头数量和形状的功能候选基因进行了评估。特别关注的是内翻乳头的出现情况和数量，内翻乳头是猪中最常见且与经济相关的乳头发育缺陷。为此，在杜洛克猪和柏林小型猪（DUMI）实验群体中，研究了PTHLH基因和PTHR1基因与内翻乳头缺陷以及乳头总数和内翻乳头数量之间的关联和连锁关系。PTHR1基因的C1819T多态性与内翻乳头表型显著相关（p = 0.014）、与乳头总数显著相关（p = 0.047），并且与内翻乳头数量接近显著相关（p = 0.078）。PTHLH基因的C375T多态性与内翻乳头表型接近显著相关（p = 0.122），在DUMI群体中与乳头总数（p = 0.621）和内翻乳头数量（p = 0.256）无显著关联。还对PTHLH和PTHR1的联合效应进行了关联分析，以探讨潜在的相互作用，但未发现相互作用效应的迹象。此处显示的功能、位置及关联表明，PTHR1是乳头数量尤其是受内翻乳头影响情况和内翻乳头数量的候选基因。
