Hara Toru, Hirai Yuriko, Baicharoen Sudarath, Hayakawa Takashi, Hirai Hirohisa, Koga Akihiko
Primate Research Institute, Kyoto University.
Genes Genet Syst. 2012;87(3):181-90. doi: 10.1266/ggs.87.181.
The superfamily Hominoidea (hominoids) comprises two families: Hominidae (hominids) and Hylobatidae (gibbons, also called small apes). The SVA transposon is a composite retrotransposon that occurs widely in hominoids and is considered to have been generated by stepwise fusions of three genetic elements: SINE-R, a variable number of tandem repeat (VNTR) sequence, and Alu. We identified a novel transposon whose basic structure is the same as that of SVA, with one prominent difference being the presence of part of prostaglandin reductase 2 (PTGR2) in place of SINE-R. We designate this composite transposon as PVA and propose two possible mechanisms regarding its generation. One is the derivation of PVA from SVA: the SINE-R region of SVA was replaced with a PTGR2 fragment by template switching. The other is the formation of PVA independently of SVA: a PTGR2 fragment was fused to an evolutionary intermediate comprising the VNTR and Alu regions. The nucleotide sequence of the junction between the VNTR and PTGR2 regions supports the second hypothesis. We identified PVA in the white-cheeked gibbon Nomascus leucogenys by analysis of genome sequence databases, and subsequent experimental analysis revealed its presence in all four gibbon genera. The white-cheeked gibbon harbors at least 93 PVA copies in its haploid genome. Another SVA-like composite transposon carrying parts of the LINE1 and Alu transposons in place of SINE-R, designated as LAVA, has recently been reported. The significance of the discovery of PVA is that its substituted fragment originates not from a transposon but from a single-copy gene. PVA should provide additional insights into the transposition mechanism of this type of composite transposon; the transposition activity is conferred even if the substituted fragment is not related to a transposon.
人猿超科(类人猿)包括两个科:人科(人亚科)和长臂猿科(长臂猿,也称为小型猿类)。SVA转座子是一种复合逆转录转座子,广泛存在于类人猿中,被认为是由三种遗传元件逐步融合产生的:SINE-R、可变数量串联重复序列(VNTR)和Alu。我们鉴定出一种新型转座子,其基本结构与SVA相同,一个显著差异是存在部分前列腺素还原酶2(PTGR2),取代了SINE-R。我们将这种复合转座子命名为PVA,并提出了两种可能的产生机制。一种是PVA由SVA衍生而来:SVA的SINE-R区域通过模板转换被PTGR2片段取代。另一种是PVA独立于SVA形成:一个PTGR2片段与一个包含VNTR和Alu区域的进化中间体融合。VNTR和PTGR2区域之间连接处的核苷酸序列支持第二种假设。我们通过分析基因组序列数据库在白颊长臂猿(Nomascus leucogenys)中鉴定出了PVA,随后的实验分析表明它存在于所有四个长臂猿属中。白颊长臂猿的单倍体基因组中至少含有93个PVA拷贝。最近报道了另一种类似SVA的复合转座子,称为LAVA,它携带部分LINE1和Alu转座子取代了SINE-R。PVA发现的意义在于其取代片段并非来自转座子,而是来自单拷贝基因。PVA应该能为这类复合转座子的转座机制提供更多见解;即使取代片段与转座子无关,也能赋予转座活性。