The axolotl genome and the evolution of key tissue formation regulators
The axolotl genome and the evolution of key tissue formation regulators
复制标题
蝾螈基因组和关键组织形成调节因子的进化
DOI：
10.1038/nature25458
复制
发表时间：
2018-02-01
期刊：
影响因子：
64.8
通讯作者：
Myers, Eugene W.
中科院分区：
文献类型：
--
作者：
Nowoshilow, Sergej;Schloissnig, Siegfried;Myers, Eugene W.
蝾螈是发育、再生和进化研究中重要的四足动物模型。广泛的分子工具箱使墨西哥蝾螈（Ambystoma mexicanum）成为分子研究的关键代表蝾螈。在这里，我们报告了32千兆酶对蝾螈基因组的测序和组装，使用一种结合长读测序、光学作图和开发新的基因组组装器（MARVEL）的方法。我们观察到内含子和基因间区域的大小扩大，主要归因于长末端重复逆转录元件的增殖。我们提供的证据表明，发育基因中的内含子大小受到限制，物种限制基因可能有助于肢体再生。美西螈基因组不包含必要的发育基因Pax3。然而，蝾螈Pax3旁系Pax7的突变导致蝾螈表型与Pax3（-/-）和Pax7（-/-）突变小鼠相似。美西螈基因组为发育和进化研究提供了丰富的生物学资源。
Salamanders serve as important tetrapod models for developmental, regeneration and evolutionary studies. An extensive molecular toolkit makes the Mexican axolotl (Ambystoma mexicanum) a key representative salamander for molecular investigations. Here we report the sequencing and assembly of the 32-gigabase-pair axolotl genome using an approach that combined long-read sequencing, optical mapping and development of a new genome assembler (MARVEL). We observed a size expansion of introns and intergenic regions, largely attributable to multiplication of long terminal repeat retroelements. We provide evidence that intron size in developmental genes is under constraint and that species-restricted genes may contribute to limb regeneration. The axolotl genome assembly does not contain the essential developmental gene Pax3. However, mutation of the axolotl Pax3 paralogue Pax7 resulted in an axolotl phenotype that was similar to those seen in Pax3(-/-) and Pax7(-/-) mutant mice. The axolotl genome provides a rich biological resource for developmental and evolutionary studies.