Tandemly repeated NBPF HOR copies (Olduvai triplets): Possible impact on human brain evolution

Scientific paper - Original scientific paper

• Author: Matko Glunčić
• Author: Ines Vlahović
• Author: Marija Rosandić
• Author: Vladimir Paar
• Author's institution: University of Zagreb; Faculty of Science; (Department of Physics)
• Scientific / art field, discipline and subdiscipline: NATURAL SCIENCES; Physics

Abstract (english)

Previously it was found that the neuroblastoma breakpoint family (NBPF) gene repeat units of ∼1.6 kb have an important role in human brain evolution and function. The higher order organization of these repeat units has been discovered by both methods, the higher order repeat (HOR)-searching method and the HLS searching method. Using the HOR searching method with global repeat map algorithm, here we identified the tandemly organized NBPF HORs in the human and nonhuman primate NCBI reference genomes. We identified 50 tandemly organized canonical 3mer NBPF HOR copies (Olduvai triplets), but none in nonhuman primates chimpanzee, gorilla, orangutan, and Rhesus macaque. This discontinuous jump in tandemly organized HOR copy number is in sharp contrast to the known gradual increase in the number of Olduvai domains (NBPF monomers) from nonhuman primates to human, especially from ∼138 in chimpanzee to ∼300 in human genome. Using the same global repeat map algorithm method we have also determined the 3mer tandems of canonical 3mer HOR copies in 20 randomly chosen human genomes (10 male and 10 female). In all cases, we found the same 3mer HOR copy numbers as in the case of the reference human genome, with no mutation. On the other hand, some point mutations with respect to reference genome are found for some NBPF monomers which are not tandemly organized in canonical HORs.

• Keywords (english): HOR; human; Neanderthal; genomes; NBPF genes; chimpanzee; Olduvai domains; HLS searching method; HOR searching method
• Language: english
• Publication type: Scientific paper - Original scientific paper
• Publication status: Published
• Peer review: Peer review - international
• Publication version: Published version
• Journal title: Life Science Alliance
• Numbering: vol. 6, no. 1, e202101306
• e-ISSN: 2575-1077
• DOI: https://doi.org/10.26508/lsa.202101306
• URN:NBN: urn:nbn:hr:217:127590
• Publication: 2023-01
• Project: Number: IP-2019-04-2757; Title (croatian): Varijante u repetitivnim strukturama višeg reda u centromernim i NBPF dijelovima genoma čovjeka i viših primata; Title (english): Variants in higher order repeat structures in centromeric and NBPF regions of human and higher primates genomes; Acronym: HORVAR; Leader: Matko Glunčić; Jurisdiction: Croatia; Funding stream: Research Projects
• Document URL: https://www.life-science-alliance.org/lookup/doi/10.26508/lsa.202101306
• Type of resource: Text
• Access conditions: Open access
• Public note: © 2022 Glunčić et al. This article is available under a Creative Commons License (Attribution 4.0 International, as described at https://creativecommons.org/licenses/by/4.0/). Received 19 November 2021; Revised 29 September 2022; Accepted 30 September 2022; Published online 19 October 2022.
• Created on: 2024-08-31 19:27:38