Duéñez-Guzmán Edgar A, Haig David
Laboratory of Socioecology and Social Evolution, KU Leuven, Naamsestraat 59, Leuven, 3000, Belgium,
J Mol Evol. 2014 Apr;78(3-4):194-201. doi: 10.1007/s00239-014-9614-3. Epub 2014 Mar 11.
NLRP proteins are important components of inflammasomes with a major role in innate immunity. A subset of NLRP genes, with unknown functions, are expressed in oocytes and early embryos. Mutations of Nlrp5 in mice are associated with maternal-effect embryonic lethality and mutations of NLRP7 in women are associated with conception of biparental complete hydatidiform moles (biCHMs), suggesting perturbed processes of genomic imprinting. Recessive mutations on NLRP2/7 in humans are associated with reproductive disorders and appear to be induced by a demethylation of the maternal pronucleus. In this study, we find that radiation of NLRP genes occurred before the common ancestor of Afrotheria and Boreoeutheria, with the clade of oocyte-expressed genes originating before the divergence of marsupial and eutherian mammals. There have been multiple independent duplications of NLRP2 genes one of which produced the NLRP7 gene associated with biCHMs.
NLRP蛋白是炎性小体的重要组成部分，在固有免疫中起主要作用。一部分功能未知的NLRP基因在卵母细胞和早期胚胎中表达。小鼠中Nlrp5的突变与母源性胚胎致死有关，而女性中NLRP7的突变与双亲完全性葡萄胎（biCHM）的形成有关，提示基因组印记过程受到干扰。人类NLRP2/7上的隐性突变与生殖障碍有关，且似乎是由母源原核的去甲基化诱导的。在本研究中，我们发现NLRP基因的辐射发生在非洲兽类和北方真兽类的共同祖先之前，而卵母细胞表达基因的进化枝起源于有袋类和真兽类哺乳动物分化之前。NLRP2基因发生了多次独立复制，其中一次产生了与biCHM相关的NLRP7基因。
