NLRP7基因在母源印记中的研究进展

NOD样受体（nucleotide binding oligomerization domain-like receptors,NLRs）家族在先天性免疫系统中行使着重要功能,与Toll样受体（Toll-like receptors,TLRs）家族相类似,该家族十分保守,不仅在植物中存在,也在哺乳动物体内表达。NLRs家族中有许多亚家族,其中,NLRP7（NACHT,LRR and PYD domains-containing protein 7）是NLRP亚家族中的一员,其在多种免疫细胞及免疫器官中表达,可参与细胞生长、增殖和分化过程,在细胞凋亡、炎症反应等生理过程中发挥作用。NLRP7除了在免疫系统中表达外,还在哺乳动物的睾丸、卵巢等生殖系统及早期胚胎中表达,NLRP7的突变通常会导致人类家族复发性葡萄胎疾病的发生,最终导致妊娠失败。近期研究发现,NLRP7是一种母源印记基因,NLRP7异常的印记状态导致了异常的胚胎发育。在猪、牛、羊等大动物中虽然尚未发现葡萄胎疾病,但许多不明原因的流产、死胎等均可能与NLRP7的突变有关。由于进化过程中NLRP7在小鼠等啮齿动物中发生了退化,因此目前有关NLRP7的研究以灵长类为主。作者就近年来NLRP7基因与动物生殖相关的研究进展进行了综述,以期为哺乳动物繁殖障碍等疾病的研究提供参考。

Research Progress on NLRP7 Gene in Maternal Imprinting

Nucleotide binding oligomerization domain-like receptors (NLRs) family is similar to Tol-like receptors (TLRs) family,which is well conserved,exists not only in plants but also in animals,and plays important roles in the innate immune system.NLRs family comprises many subfamilies,in which NACHT,LRR and PYD domains-containing protein 7 (NLRP7),a member of NLRP subfamily, which is expressed in a variety of immune cells and immune organs,and participates in cell growth,proliferation,differentiation,apoptosis and immune response(inflammation).NLRP7 was not only expressed in the immune system but also expressed in the mammalian testis and ovary of the reproductive system as well as early embryos,and NLRP7 mutations usually cause the human family recurrent hydatidiform mole disease,resulting in pregnancy failure.Recent studies have found that NLRP7 is a maternal imprinted gene,and the abnormal imprinting status of NLRP7 is closely related to the abnormal embryonic development.Although the hydatidiform mole disease has not been found in large animals such as pigs,cattle and sheep,many unexplained abortion,stillbirth and so on may be related to the mutation of NLRP7.NLRP7 has degraded in mice and other rodents during the evolution process,so the current studies of NLRP7 mainly focus on the primates.This paper reviews the latest research progress about NLRP7 in order to provide reference for the exploration of mammals reproductive disorders and other diseases.