论文部分内容阅读
重复序列不仅是动物基因组的重要组分，也对于基因组结构多样性、调节基因表达和介导多种遗传疾病具有重要影响。本研究采用了 2 种策略：基于序列比对的 Repeat Masker(RM)和从头预测的 Repeat Scout(RS)，对大熊猫 Ailuropoda melanoleura 基因组中的重复序列进行鉴定与注释，详细阐明了其转座子元件(TE)的组成、类型、数量、亚家族、长度分布、分化率等。比较 2 种注释方法的结果，RM 注释到的 TE 数量在绝大部分亚家族中均多于 RS，而在某些亚家族中则少于 RS；RS 注释的 TE 亚家族类型及平均长度均小于 RM。此外我们发现 RS 构建的大熊猫 TE 一致性序列中，有 20%并不属于现有的重复序列类型，可能包含大熊猫特有的TE 类型。研究结果对于阐明大熊猫重复序列的特征及其生物学功能奠定了重要基础。
Repeats are not only important components of the animal genome, but also have important implications for the diversity of genomic structures, regulation of gene expression and mediation of a variety of genetic diseases. In this study, we used two strategies: Repeat Masker (RM) based on sequence alignment and Repeat Scout (RS) from ab initio to identify and annotate the repeats in the genome of Ailuropoda melanoleura in giant panda, Element (TE) composition, type, quantity, subfamily, length distribution, differentiation rate and so on. Comparing the results of two annotation methods, the number of TEs annotated by RM was more than RS in most subfamilies and less than RS in some subfamilies. The TE subfamilies and average length of RS annotations were both less than RM. In addition, we found that 20% of the conformation sequences of giant panda TEs constructed by RS do not belong to the existing repetitive sequence types and may include the panda-specific TE types. The results provide an important basis for elucidating the characteristics of giant panda repeats and their biological functions.