Mogensen Line, Kinze Carl Christian, Werge Thomas, Rasmussen Henrik Berg
Research Institute of Biological Psychiatry, H:S Sct. Hans Hospital, Copenhagen University, 2 Boserupvej, DK-4000 Roskilde, Denmark.
J Hered. 2006 May-Jun;97(3):279-84. doi: 10.1093/jhered/esj024. Epub 2006 Feb 22.
A large number of mammalian species harbor a tandem repeat in exon III of the gene encoding dopamine receptor D4 (DRD4), a receptor associated with cognitive functions. In this study, a DRD4 gene exon III tandem repeat from the order Cetacea was identified and characterized. Included in our study were samples from 10 white-beaked dolphins (Lagenorhynchus albirostris), 10 harbor porpoises (Phocoena phocoena), eight sperm whales (Physeter macrocephalus), and five minke whales (Balaenoptera acutorostrata). Using enzymatic amplification followed by sequencing of amplified fragments, a tandem repeat composed of 18-bp basic units was detected in all of these species. The tandem repeats in white-beaked dolphin and harbor porpoise were both monomorphic and consisted of 11 and 12 basic units, respectively. In contrast, the sperm whale harbored a polymorphic tandem repeat with size variants composed of three, four, and five basic units. Also the tandem repeat in minke whale was polymorphic; size variants composed of 6 or 11 basic units were found in this species. The consensus sequences of the basic units were identical in the closely related white-beaked dolphin and harbor porpoise, and these sequences differed by a maximum of two changes when compared to the remaining species. There was a high degree of similarity between the cetacean basic unit consensus sequences and those from members of the horse family and domestic cow, which also harbor a tandem repeat composed of 18-bp basic units in exon III of their DRD4 gene. Consequently, the 18-bp tandem repeat appears to have originated prior to the differentiation of hoofed mammals into odd-toed and even-toed ungulates. The composition of the tandem repeat in cetaceans differed markedly from that in primates, which is composed of 48-bp repeat basic units.
大量哺乳动物物种在编码多巴胺受体D4(DRD4)的基因外显子III中存在串联重复序列,DRD4是一种与认知功能相关的受体。在本研究中,鉴定并表征了来自鲸目动物的DRD4基因外显子III串联重复序列。我们的研究样本包括10只白喙斑纹海豚(Lagenorhynchus albirostris)、10只港湾鼠海豚(Phocoena phocoena)、8只抹香鲸(Physeter macrocephalus)和5只小须鲸(Balaenoptera acutorostrata)。通过酶促扩增随后对扩增片段进行测序,在所有这些物种中均检测到由18个碱基对基本单元组成的串联重复序列。白喙斑纹海豚和港湾鼠海豚中的串联重复序列均为单态性,分别由11个和12个基本单元组成。相比之下,抹香鲸存在多态性串联重复序列,其大小变异体由3个、4个和5个基本单元组成。小须鲸中的串联重复序列也是多态性的;在该物种中发现了由6个或11个基本单元组成的大小变异体。密切相关的白喙斑纹海豚和港湾鼠海豚的基本单元共有序列相同,与其余物种相比,这些序列最多有两个变化。鲸类基本单元共有序列与马科动物和家牛成员的共有序列高度相似,它们在DRD4基因外显子III中也存在由18个碱基对基本单元组成的串联重复序列。因此,18个碱基对的串联重复序列似乎在有蹄类哺乳动物分化为奇蹄目和偶蹄目之前就已出现。鲸类串联重复序列的组成与灵长类动物明显不同,灵长类动物的串联重复序列由48个碱基对的重复基本单元组成。