Mutation profiling of a limbless pig reveals genome-wide regulation of RNA processing related to bone development
Mutation profiling of a limbless pig reveals genome-wide regulation of RNA processing related to bone development
复制标题
无肢猪的突变图谱揭示了与骨骼发育相关的RNA加工的全基因组调控
DOI：
10.1007/s13353-021-00653-0
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发表时间：
2021-07-19
影响因子：
2.4
通讯作者：
Wang, Haibin
中科院分区：
文献类型：
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作者：
Jiang, Yankai;Cao, Xinyue;Wang, Haibin
突变是表型变化的基础，也是自然选择的源泉。四肢的发育是脊椎动物进化的里程碑。一些肢体和骨骼相关的基因已得到实验验证，但肢体发育的其他间接和调控因素尚未得到验证，特别是在自然环境中观察到的情况很少。我们报告一个自然出生的蛇形猪没有后肢。全基因组测序，然后进行比较基因组分析，揭示了残疾猪特异性突变的多种有趣的模式。虽然骨相关基因没有直接发生突变，但其他调节因子如RNA脱氨酶基因阿达尔在残疾猪中受到损伤，导致许多功能性保守基因以及骨相关基因中A至I的脱氨基作用消失。这是在自然出生的非模式生物中观察到无肢表型的珍贵案例。我们的研究拓宽了无肢表型在哺乳动物中的普遍性，并将后肢发育的调控扩展到其他非骨相关基因。我们对肢体和骨骼相关突变和调控的了解也将有助于人类遗传学。
Mutation is the basis of phenotypic changes and serves as the source of natural selection. The development of limbs has been the milestone in vertebrate evolution. Several limb and bone-related genes were verified experimentally, but other indirect and regulatory factors of limb development remained untested, especially very few cases were observed in natural environment. We report a naturally born serpentized pig without hindlimbs. Whole genome sequencing followed by comparative genomic analysis revealed multiple interesting patterns on the handicapped pig-specific mutations. Although the bone-related genes are not directly subjected to mutations, other regulatory factors such as the RNA deaminase genes Adar are damaged in the handicapped pig, leading to the abolished A-to-I deamination in many functional, conserved genes as well as the bone-related genes. This is a precious case that the limbless phenotype is observed in naturally born non-model organisms. Our study broadened the generality of the limbless phenotype across mammals and extended the regulation of hindlimb development to other non-bone-related genes. Our knowledge of limb and bone-related mutations and regulation would also contribute to human genetics.