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非模式生物中具有进化意义的基因的先验和后验研究方法:荒漠啮齿动物多刺跳鼠(斑尾袋鼠鼠)肾脏转录组中的渗透压调节基因。

A priori and a posteriori approaches for finding genes of evolutionary interest in non-model species: osmoregulatory genes in the kidney transcriptome of the desert rodent Dipodomys spectabilis (banner-tailed kangaroo rat).

机构信息

Department of Forestry & Natural Resources, Purdue University, West Lafayette, IN 47907, USA.

出版信息

Comp Biochem Physiol Part D Genomics Proteomics. 2012 Dec;7(4):328-39. doi: 10.1016/j.cbd.2012.07.001. Epub 2012 Jul 13.

Abstract

One common goal in evolutionary biology is the identification of genes underlying adaptive traits of evolutionary interest. Recently next-generation sequencing techniques have greatly facilitated such evolutionary studies in species otherwise depauperate of genomic resources. Kangaroo rats (Dipodomys sp.) serve as exemplars of adaptation in that they inhabit extremely arid environments, yet require no drinking water because of ultra-efficient kidney function and osmoregulation. As a basis for identifying water conservation genes in kangaroo rats, we conducted a priori bioinformatics searches in model rodents (Mus musculus and Rattus norvegicus) to identify candidate genes with known or suspected osmoregulatory function. We then obtained 446,758 reads via 454 pyrosequencing to characterize genes expressed in the kidney of banner-tailed kangaroo rats (Dipodomys spectabilis). We also determined candidates a posteriori by identifying genes that were overexpressed in the kidney. The kangaroo rat sequences revealed nine different a priori candidate genes predicted from our Mus and Rattus searches, as well as 32 a posteriori candidate genes that were overexpressed in kidney. Mutations in two of these genes, Slc12a1 and Slc12a3, cause human renal diseases that result in the inability to concentrate urine. These genes are likely key determinants of physiological water conservation in desert rodents.

摘要

进化生物学的一个共同目标是确定具有进化意义的适应性特征的基因。最近,下一代测序技术极大地促进了这些在基因组资源匮乏的物种中的进化研究。袋鼠鼠(Dipodomys sp.)是适应的典范,因为它们栖息在极其干旱的环境中,但由于具有超高效率的肾功能和渗透压调节功能,它们不需要饮用水。为了确定袋鼠鼠的节水基因,我们在模式啮齿动物(Mus musculus 和 Rattus norvegicus)中进行了先验生物信息学搜索,以确定具有已知或疑似渗透压调节功能的候选基因。然后,我们通过 454 焦磷酸测序获得了 446,758 条读数,以描述在斑尾袋鼠鼠(Dipodomys spectabilis)肾脏中表达的基因。我们还通过鉴定在肾脏中过度表达的基因来确定后验候选基因。袋鼠鼠序列揭示了从我们的 Mus 和 Rattus 搜索中预测的九个不同的先验候选基因,以及在肾脏中过度表达的 32 个后验候选基因。这两个基因 Slc12a1 和 Slc12a3 的突变导致人类肾脏疾病,导致无法浓缩尿液。这些基因可能是沙漠啮齿动物生理节水的关键决定因素。

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