Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
BMC Genet. 2010 Oct 28;11:96. doi: 10.1186/1471-2156-11-96.
The level of nucleotide diversity observed across the genome is positively correlated with the local rate of recombination. Avian karyotypes are typified by large variation in chromosome size and the rate of recombination in birds has been shown to be negatively correlated with chromosome size. It has thus been predicted that nucleotide diversity is negatively correlated with chromosome size in aves. However, there is limited empirical evidence to support this prediction.
Here we sequenced 27 autosomal and 12 sex chromosome-linked loci in the white-throated sparrow (Zonotrichia albicollis) to quantify and compare patterns of recombination, linkage disequilibrium (LD), and genetic diversity across the genome of this North American songbird. Genetic diversity on the autosomes varied up to 8-fold, with the lowest diversity observed on the macrochromosomes and the highest diversity on the microchromosomes. Genetic diversity on the sex chromosomes was reduced compared to the autosomes, the most extreme difference being a ~300-fold difference between the W chromosome and the microchromosomes. LD and population structure associated with a common inversion polymorphism (ZAL2/2m) in this species were found to be atypical compared to other macrochromosomes, and nucleotide diversity within this inversion on the two chromosome arrangements was more similar to that observed on the Z chromosome.
A negative correlation between nucleotide diversity and autosome size was observed in the white-throated sparrow genome, as well as low levels of diversity on the sex chromosomes comparable to those reported in other birds. The population structure and extended LD associated with the ZAL2/2m chromosomal polymorphism are exceptional compared to the rest of the white-throated sparrow genome.
基因组中观察到的核苷酸多样性水平与局部重组率呈正相关。鸟类的核型以染色体大小的巨大差异为特征,并且鸟类的重组率已被证明与染色体大小呈负相关。因此,有人预测核苷酸多样性与鸟类的染色体大小呈负相关。然而,支持这一预测的经验证据有限。
在这里,我们对 27 个常染色体和 12 个性染色体连锁基因座进行了测序,以量化和比较北美鸣禽白喉雀(Zonotrichia albicollis)基因组中重组、连锁不平衡(LD)和遗传多样性的模式。常染色体上的遗传多样性变化高达 8 倍,最低多样性见于大染色体,最高多样性见于微染色体。性染色体上的遗传多样性与常染色体相比有所降低,最极端的差异是 W 染色体和微染色体之间的差异约为 300 倍。与该物种中常见的倒位多态性(ZAL2/2m)相关的 LD 和种群结构与其他大染色体相比是非典型的,并且在这两个染色体排列中,该倒位内的核苷酸多样性与在 Z 染色体上观察到的核苷酸多样性更为相似。
在白喉雀基因组中观察到核苷酸多样性与常染色体大小呈负相关,性染色体上的多样性水平也较低,与其他鸟类报道的水平相当。与白喉雀基因组的其余部分相比,ZAL2/2m 染色体多态性相关的种群结构和扩展 LD 是异常的。