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

التفاصيل البيبلوغرافية
العنوان: Tandemly repeated NBPF HOR copies (Olduvai triplets): Possible impact on human brain evolution
المؤلفون: Matko Glunčić, Ines Vlahović, Marija Rosandić, Vladimir Paar
المصدر: Life Science Alliance. 6:e202101306
بيانات النشر: Life Science Alliance, LLC, 2022.
سنة النشر: 2022
مصطلحات موضوعية: Male, Pan troglodytes, Ecology, Genome, Human, Health, Toxicology and Mutagenesis, Brain, Plant Science, Macaca mulatta, Biochemistry, Genetics and Molecular Biology (miscellaneous), HOR, human, Neanderthal, genomes, NBPF genes, chimpanzee, Olduvai domains, HLS searching method, HOR searching method, Evolution, Molecular, Neuroblastoma, Animals, Humans, Female
الوصف: 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.
تدمد: 2575-1077
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a3e288bc553bd2941663d5b45ff2c9e
https://doi.org/10.26508/lsa.202101306
حقوق: OPEN
رقم الأكسشن: edsair.doi.dedup.....0a3e288bc553bd2941663d5b45ff2c9e
قاعدة البيانات: OpenAIRE