The Olduvai domain, known until 2018 as DUF1220 (domain of unknown function 1220) and the NBPF repeat,[1] is a protein domain that shows a striking human lineage-specific (HLS) increase in copy number and appears to be involved in human brain evolution.[2] The protein domain has also been linked to several neurogenetic disorders such as schizophrenia (in reduced copies) and increased severity of autism (in increased copies).[3] In 2018, it was named by its discoverers after Olduvai Gorge in Tanzania, one of the most important archaeological sites for early humans, to reflect data indicating its role in human brain size and evolution.[1]
Olduvai domains form the core of NBPF genes, which first appeared in placental mammals and experienced a rapid expansion in monkeys (simians) through duplication to reach over 20 genes in humans. In humans, Olduvai domains are repeated often dozens of times within these genes. The only other gene an Olduvai domain has been found in is mammalian myomegalin, believed to be the origin of the NBPF genes via duplication. Myomegalin itself arose from a duplication of CDK5RAP2, and all of these genes have been implicated in the development of neurons.
Olduvai copy number is the highest in humans (~289, with person-to-person variations), reduced in African great apes (~125 copies in chimpanzees, ~99 in gorillas, ~92 in orangutans), further reduced in Old World monkeys (~35), single- or low-copy in non-primate mammals and absent in non-mammals.[3] Consequently, the Olduvai domain demonstrates the largest HLS increase in copy number of any protein-coding region over any other living species, an additional ~160 copies compared with chimpanzees. The increase in the number of copies that are present in connection with Olduvai seems to have a direct correlation with several phenotypes of the brain including the increase in brain size as seen through evolution.[4]
In the human genome, DUF1220 sequences are located primarily on chromosome 1 in region 1q21.1-q21.2, with several copies also found at 1p36, 1p13.3, and 1p12. They are approximately 65 amino acids in length and are encoded by a two-exon doublet. Sequences encoding DUF1220 domains show rhythmicity, resonance and signs of positive selection, especially in primates, and are expressed in several human tissues including brain, where their expression is restricted to neurons.[2] The various HLS domains do not show any interactions as suggested by nuclear magnetic resonance backbone chemical shift analyses.[5]
^ abSikela JM, van Roy F (2018). "Changing the name of the NBPF/DUF1220 domain to the Olduvai domain". F1000Research. 6 (2185): 2185. doi:10.12688/f1000research.13586.1. PMC 5773923. PMID 29399325.
^ abPopesco MC, Maclaren EJ, Hopkins J, Dumas L, Cox M, Meltesen L, et al. (September 2006). "Human lineage-specific amplification, selection, and neuronal expression of DUF1220 domains". Science. 313 (5791): 1304–7. Bibcode:2006Sci...313.1304P. doi:10.1126/science.1127980. PMID 16946073. S2CID 6878260.
^ abO'Bleness MS, Dickens CM, Dumas LJ, Kehrer-Sawatzki H, Wyckoff GJ, Sikela JM (September 2012). "Evolutionary history and genome organization of DUF1220 protein domains". G3. 2 (9): 977–86. doi:10.1534/g3.112.003061. PMC 3429928. PMID 22973535.
^Astling DP, Heft IE, Jones KL, Sikela JM (August 2017). "High resolution measurement of DUF1220 domain copy number from whole genome sequence data". BMC Genomics. 18 (1): 614. doi:10.1186/s12864-017-3976-z. PMC 5556342. PMID 28807002.
^Issaian A, Schmitt L, Born A, Nichols PJ, Sikela J, Hansen K, et al. (October 2019). "Solution NMR backbone assignment reveals interaction-free tumbling of human lineage-specific Olduvai protein domains". Biomolecular NMR Assignments. 13 (2): 339–343. doi:10.1007/s12104-019-09902-0. PMC 6715528. PMID 31264103.
The Olduvaidomain, known until 2018 as DUF1220 (domain of unknown function 1220) and the NBPF repeat, is a protein domain that shows a striking human...
Look up olduvai in Wiktionary, the free dictionary. Olduvai may refer to: Olduvai Gorge Seven Views of Olduvai Gorge Olduvai Gorge Museum Olduvai Hominid...
(cnn) and paralogous to myomegalin, which in mammals contains an Olduvaidomain, a domain implicated in human brain size evolution. CDK5RAP2 is necessary...
The NBPF genes contain multiple copies of the Olduvaidomain. A higher number of copies of this domain has been found to be correlated with brain size...
mammals, around 200 million years ago, myomegalin gained an Olduvaidomain. Olduvaidomains have so far only elsewhere been found in NBPF genes in placental...
NBPF26 is notch 2 N-terminal like R (NOTCH2NLR). NBPF26 encodes 13 Olduvaidomains, which are thought to contribute to the rapid expansion of the neocortex...
and foot bones dating to 1.75 million years ago (mya)—were discovered in Olduvai Gorge, Tanzania, in 1960 by Jonathan Leakey. However, the actual first...
specimen, OH 5, was discovered by palaeoanthropologist Mary Leakey in 1959 at Olduvai Gorge, Tanzania and described by her husband Louis a month later. It was...
Pleistocene epoch. The best known species is Pelorovis oldowayensis from Olduvai Gorge in Tanzania, from the Early Pleistocene. The species "Pelorovis"...
Taurotragus arkelli was first described L.S.B. Leakey in 1965 from the Olduvai Gorge (Bed IV) in Tanzania. The material assigned to the species consists...
Palaeontologia Electronica. 9 (1): 2A. ISSN 1094-8074. "OVPP-Struthio 8". olduvai-paleo.org. Andersson, Johan Gunnar (1943). "Research into the prehistory...
Fossilworks. Gentry, A.W.; Gentry, A. (1978). "Fossil Bovidae (Mammalia) of Olduvai Gorge, Tanzania, Part 1". Bulletin of the British Museum (Natural History)...
assigning sex to the fossil record is a few samples taken in Olduvai Gorge. In 1960, in Olduvai Gorge two skulls identified as OH12 and OH9, were found to...
Pérez-Claros, Maria Rita Palombo, Lorenzo Rook, and Paul Palmqvist: The Olduvai buffalo Pelorovis and the origin of Bos. Quaternary Research Volume 68...
first described by Louis Leakey in 1965 from material discovered at the Olduvai Gorge (Beds I and II) in Tanzania. Other remains dated slightly earlier...
be very distinct. In 1959, P. boisei was discovered by Mary Leakey at Olduvai Gorge, Tanzania (specimen OH 5). Her husband Louis named it Zinjanthropus...
early Pliocene. The earliest fossils recognisable as lions were found at Olduvai Gorge in Tanzania and are estimated to be up to 2 million years old. Estimates...
Cherin, Marco (2021). "A new cranium of Crocodylus anthropophagus from Olduvai Gorge, northern Tanzania". Rivista Italiana di Paleontologia e Stratigrafia...
Turkana Basin suggests a high consumption of C4 plants. For specimens from Olduvai Gorge in Tanzania, dental microwear suggests a mixed feeding diet (including...
Sedimentology of Modern East African Wetlands and a Pleistocene Paleo-Wetland at Olduvai Gorge, Tanzania. His doctoral advisor was Gail Ashley. He completed a postdoctoral...
Cherin, Marco (2021). "A new cranium of Crocodylus anthropophagus from Olduvai Gorge, northern Tanzania". Rivista Italiana di Paleontologia e Stratigrafia...
years ago from a large pantherine cat that originated in the Tanzanian Olduvai Gorge about 1.2–1.7 million years ago. This cat entered Eurasia about 780...
and Early Pleistocene. Fossils of this species were first found in the Olduvai gorge back in 1978, and it was described several years later. S. acoelotus...
Domain?". Library Journal. Archived from the original on 19 November 2016. Retrieved 9 November 2016. "The Little Prince: Almost in the Public Domain"...
comprises a skull and partial skeleton. All specimens were discovered in Olduvai Gorge, Tanzania, in two different rock formations dating to 1.845 and 1...
Press, ISBN 978-0-226-07089-6 Hopwood, 1934 : New fossil Mammals from Olduvai, Tanganyika Territory. Annals & Magazine of Natural History Series, vol...
crocodilian predation is known from bite marks on hominin bones from the Olduvai Gorge, and these marks were likely made by the closely related crocodile...
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