PDF(Pubmed)
Abstract：
It is known that the ~ 1.6 kb Neuroblastoma BreakPoint Family (NBPF) repeats are human specific and contributing to cognitive capabilities, with increasing frequency in higher order repeat 3mer HORs (Olduvai triplets). From chimpanzee to modern human there is a discontinuous jump from 0 to ~ 50 tandemly organized 3mer HORs. Here we investigate the structure of NBPF 3mer HORs in the Neanderthal genome assembly of Pääbo et al., comparing it to the results obtained for human hg38.p14 chromosome 1. Our findings reveal corresponding NBPF 3mer HOR arrays in Neanderthals with slightly different monomer structures and numbers of HOR copies compared to humans. Additionally, we compute the NBPF 3mer HOR pattern for the complete telomere-to-telomere human genome assembly (T2T-CHM13) by Miga et al., identifying two novel tandem arrays of NBPF 3mer HOR repeats with 5 and 9 NBPF 3mer HOR copies. We hypothesize that these arrays correspond to novel NBPF genes (here referred to as NBPFA1 and NBPFA2). Further improving the quality of the Neanderthal genome using T2T-CHM13 as a reference would be of great interest in determining the presence of such distant novel NBPF genes in the Neanderthal genome and enhancing our understanding of human evolution.
摘要：
众所周知，〜1.6kb神经母细胞瘤断点家族（NBPF）重复序列是人类特异性的，有助于认知能力。高阶重复3merHOR（Olduvai三胞胎）的频率增加。从黑猩猩到现代人，有一个不连续的跳跃，从0到50tandemly组织的3merHOR。在这里，我们研究了Pääbo等人的尼安德特人基因组组装中NBPF3merHOR的结构。,将其与人类HG38获得的结果进行比较。p14染色体1。我们的发现揭示了尼安德特人中相应的NBPF3merHOR阵列，与人类相比，单体结构和HOR拷贝数略有不同。此外,我们计算了Miga等人的完整端粒到端粒人类基因组组装（T2T-CHM13）的NBPF3merHOR模式。,鉴定具有5个和9个NBPF3merHOR拷贝的两个新的NBPF3merHOR重复序列。我们假设这些阵列对应于新的NBPF基因(这里称为NBPFA1和NBPFA2)。使用T2T-CHM13作为参考进一步提高尼安德特人基因组的质量将对确定尼安德特人基因组中这种遥远的新NBPF基因的存在以及增强我们对人类进化的理解非常感兴趣。
