Cheng C-H Christina, Detrich H William
Department of Animal Biology, University of Illinois, Urbana, IL 61801, USA.
Philos Trans R Soc Lond B Biol Sci. 2007 Dec 29;362(1488):2215-32. doi: 10.1098/rstb.2006.1946.
The notothenioid fishes of the Southern Ocean surrounding Antarctica are remarkable examples of organismal adaptation to extreme cold. Their evolution since the mid-Miocene in geographical isolation and a chronically cold marine environment has resulted in extreme stenothermality of the extant species. Given the unique thermal history of the notothenioids, one may ask what traits have been gained, and conversely, what characters have been lost through change in the information content of their genomes. Two dramatic changes that epitomize such evolutionary transformations are the gain of novel antifreeze proteins, which are obligatory for survival in icy seawater, by most notothenioids and the paradoxical loss of respiratory haemoproteins and red blood cells, normally deemed indispensable for vertebrate life, by the species of a highly derived notothenioid family, the icefishes. Here, we review recent advances in our understanding of these traits and their evolution and suggest future avenues of investigation. The formerly coherent paradigm of notothenioid freeze avoidance, developed from three decades of study of antifreeze glycoprotein (AFGP) based cold adaptation, now faces challenges stemming from the recent discovery of antifreeze-deficient, yet freeze-resistant, early notothenioid life stages and from definitive evidence that the liver is not the physiological source of AFGPs in notothenioid blood. The resolution of these intriguing observations is likely to reveal new physiological traits that are unique to the notothenioids. Similarly, the model of AFGP gene evolution from a notothenioid pancreatic trypsinogen-like gene precursor is being expanded and refined based on genome-level analyses of the linked AFGP loci and their ancestral precursors. Finally, the application of comparative genomics to study evolutionary change in the AFGP genotypes of cool-temperate notothenioids from sub-Antarctic habitats, where these genes are not necessary, will contribute to the mechanistic understanding of the dynamics of AFGP gene gain and loss. In humans and most vertebrates, mutations in the alpha- or beta-globin genes or defects in globin chain synthesis are causes of severe genetic disease. Thus, the 16 species of haemoglobinless, erythrocyte-null icefishes are surprising anomalies -- in fact, they could only have evolved and thrived due to relaxed selection pressure for oxygen-binding proteins in the cold, oxygen-rich waters of the Southern Ocean. Fifteen of the sixteen icefish species have lost most of the adult alphabeta-globin locus and retain only a small 3' fragment of the alpha-globin gene. The only exception to this pattern occurs in Neopagetopsis ionah, which possesses a disrupted alphabeta-globin gene complex that probably represents a non-functional intermediate on the evolutionary pathway to near total globin gene extinction. By contrast, six of the icefish species fail to express myoglobin. The absence of myoglobin expression has occurred by several independent mutations and distinct mechanisms. Haemoprotein loss is correlated with dramatic increases in cellular mitochondrial density, heart size, blood volume and capillary bed volume. Evolution of these compensatory traits was probably facilitated by the homeostatic activity of nitric oxide, a key modulator of angiogenesis and mitochondrial biogenesis. These natural knockouts of the red blood cell lineage are an excellent genomic resource for erythroid gene discovery by comparative genomics, as illustrated for the newly described gene, bloodthirsty.
环绕南极洲的南大洋中的南极鱼科鱼类是生物适应极端寒冷环境的显著例子。自中新世中期以来,它们在地理隔离和长期寒冷的海洋环境中进化,导致现存物种具有极端的狭温性。鉴于南极鱼科鱼类独特的热历史,人们可能会问,它们通过基因组信息内容的变化获得了哪些性状,反之又失去了哪些特征。体现这种进化转变的两个显著变化是,大多数南极鱼科鱼类获得了新型抗冻蛋白,这对于在冰冷海水中生存至关重要;而在一个高度特化的南极鱼科家族——冰鱼科的物种中,却反常地失去了呼吸血红蛋白和红细胞,而这些通常被认为是脊椎动物生命不可或缺的。在此,我们回顾了我们对这些性状及其进化的理解方面的最新进展,并提出了未来的研究途径。基于对基于抗冻糖蛋白(AFGP)的冷适应进行了三十年研究而形成的、以前连贯的南极鱼科鱼类避免结冰的范式,现在面临着挑战,这些挑战源于最近发现的缺乏抗冻能力但具有抗冻性的南极鱼科鱼类早期生命阶段,以及确凿证据表明肝脏不是南极鱼科鱼类血液中AFGP的生理来源。解决这些有趣的观察结果可能会揭示南极鱼科鱼类特有的新生理性状。同样,基于对相关AFGP基因座及其祖先前体的基因组水平分析,从南极鱼科鱼类胰腺类胰蛋白酶原样基因前体进化而来的AFGP基因模型正在得到扩展和完善。最后,将比较基因组学应用于研究来自亚南极栖息地的温带南极鱼科鱼类AFGP基因型的进化变化,在这些栖息地这些基因并非必需,这将有助于从机制上理解AFGP基因得失的动态过程。在人类和大多数脊椎动物中,α-或β-珠蛋白基因突变或珠蛋白链合成缺陷是严重遗传疾病的病因。因此,16种无血红蛋白、无红细胞的冰鱼是令人惊讶的异常现象——事实上,它们之所以能够进化并繁荣,只是因为在南大洋寒冷、富氧的水域中,对氧结合蛋白的选择压力有所放松。1十六条冰鱼物种中有十五种失去了大部分成年αβ-珠蛋白基因座,仅保留了α-珠蛋白基因的一小段3'片段。这种模式的唯一例外发生在艾氏新平鲉身上,它拥有一个 disrupted 的αβ-珠蛋白基因复合体,这可能代表了在进化途径上接近完全珠蛋白基因灭绝的无功能中间体。相比之下,六种冰鱼物种不表达肌红蛋白。肌红蛋白表达的缺失是由几个独立的突变和不同的机制导致的。血红蛋白的丧失与细胞线粒体密度、心脏大小、血容量和毛细血管床体积的显著增加相关。这些补偿性状的进化可能是由一氧化氮的稳态活性促进的,一氧化氮是血管生成和线粒体生物发生的关键调节因子。红细胞谱系的这些天然缺失是通过比较基因组学发现红细胞基因的优秀基因组资源,如新描述的“嗜血”基因所示。