Human accelerated regions (HARs), first described in August 2006,[1][2] are a set of 49 segments of the human genome that are conserved throughout vertebrate evolution but are strikingly different in humans. They are named according to their degree of difference between humans and chimpanzees (HAR1 showing the largest degree of human-chimpanzee differences). Found by scanning through genomic databases of multiple species, some of these highly mutated areas may contribute to human-specific traits. Others may represent loss of functional mutations, possibly due to the action of biased gene conversion[2][3] rather than adaptive evolution.[4][5][6]
Characterisation of HAR1-HAR5 regions, from a paper on Forces shaping the fastest evolving regions in the human genome by Katherine Pollardet al.[2]
Several of the HARs encompass genes known to produce proteins important in neurodevelopment. HAR1 is a 106-base pair stretch found on the long arm of chromosome 20 overlapping with part of the RNA genesHAR1F and HAR1R. HAR1F is active in the developing human brain. The HAR1 sequence is found (and conserved) in chickens and chimpanzees but is not present in fish or frogs that have been studied. There are 18 base pair mutations different between humans and chimpanzees, far more than expected by its history of conservation.[1]
HAR2 includes HACNS1 a gene enhancer "that may have contributed to the evolution of the uniquely opposable human thumb, and possibly also modifications in the ankle or foot that allow humans to walk on two legs". Evidence to date shows that of the 110,000 gene enhancer sequences identified in the human genome, HACNS1 has undergone the most change during the evolution of humans following the split with the ancestors of chimpanzees.[7] The substitutions in HAR2 may have resulted in loss of binding sites for a repressor, possibly due to biased gene conversion.[8][9]
^ abPollard KS, Salama SR, Lambert N, Lambot MA, Coppens S, Pedersen JS, Katzman S, King B, Onodera C, Siepel A, Kern AD, Dehay C, Igel H, Ares M Jr, Vanderhaeghen P, Haussler D (2006-08-16). "An RNA gene expressed during cortical development evolved rapidly in humans" (PDF). Nature. 443 (7108): 167–172. Bibcode:2006Natur.443..167P. doi:10.1038/nature05113. PMID 16915236. S2CID 18107797. supplement
^ abcPollard KS, Salama SR, King B, Kern AD, Dreszer T, Katzman S, Siepel A, Pedersen JS, Bejerano G, Baertsch R, Rosenbloom KR, Kent J, Haussler D (October 2006). "Forces shaping the fastest evolving regions in the human genome". PLoS Genet.2 (10): e168. doi:10.1371/journal.pgen.0020168. PMC1599772. PMID 17040131.
^Kostka D, Hubisz MJ, Siepel A, Pollard KS (March 2012). "The role of GC-biased gene conversion in shaping the fastest evolving regions of the human genome". Mol. Biol. Evol.29 (3): 1047–57. doi:10.1093/molbev/msr279. PMC3278478. PMID 22075116.
^"HACNS1: Gene enhancer in evolution of human opposable thumb". Science Codex. September 4, 2008. Retrieved May 17, 2010.
^"Loss-of-Function Mutation in a Repressor Module of Human-Specifically Activated Enhancer HACNS1". Molecular Biology and Evolution. September 22, 2011. Archived from the original on April 15, 2013.
^Zimov, S. (February 6, 2009). "Comment on "Human-Specific Gain of Function in a Developmental Enhancer"". Science. 323 (5915): 714–5, author reply 714-5. doi:10.1126/science.323.5915.714a. PMID 19197041. S2CID 31587069.
April 11, 2024
human, accelerated, regions, this, article, needs, additional, citations, verification, please, help, improve, this, article, adding, citations, reliable, sources, unsourced, material, challenged, removed, find, sources, news, newspapers, books, scholar, jstor. This article needs additional citations for verification Please help improve this article by adding citations to reliable sources Unsourced material may be challenged and removed Find sources Human accelerated regions news newspapers books scholar JSTOR September 2023 Learn how and when to remove this template message Human accelerated regions HARs first described in August 2006 1 2 are a set of 49 segments of the human genome that are conserved throughout vertebrate evolution but are strikingly different in humans They are named according to their degree of difference between humans and chimpanzees HAR1 showing the largest degree of human chimpanzee differences Found by scanning through genomic databases of multiple species some of these highly mutated areas may contribute to human specific traits Others may represent loss of functional mutations possibly due to the action of biased gene conversion 2 3 rather than adaptive evolution 4 5 6 Characterisation of HAR1 HAR5 regions from a paper on Forces shaping the fastest evolving regions in the human genome by Katherine Pollard et al 2 Several of the HARs encompass genes known to produce proteins important in neurodevelopment HAR1 is a 106 base pair stretch found on the long arm of chromosome 20 overlapping with part of the RNA genes HAR1F and HAR1R HAR1F is active in the developing human brain The HAR1 sequence is found and conserved in chickens and chimpanzees but is not present in fish or frogs that have been studied There are 18 base pair mutations different between humans and chimpanzees far more than expected by its history of conservation 1 HAR2 includes HACNS1 a gene enhancer that may have contributed to the evolution of the uniquely opposable human thumb and possibly also modifications in the ankle or foot that allow humans to walk on two legs Evidence to date shows that of the 110 000 gene enhancer sequences identified in the human genome HACNS1 has undergone the most change during the evolution of humans following the split with the ancestors of chimpanzees 7 The substitutions in HAR2 may have resulted in loss of binding sites for a repressor possibly due to biased gene conversion 8 9 HAR genes editHAR01 HAR1F amp HAR1R HAR02 CENTG2 including the HACNS1 module HAR03 MAD1L1 HAR04 HAR05 WNK1 HAR06 WWOX HAR07 HAR08 POU6F2 HAR09 PTPRT HAR10 FHIT HAR11 DMD HAR12 HAR20 PPARGC1A HAR21 NPAS3 association with psychiatric disorders citation needed HAR23 MGC27016 HAR24 SCAP2 HAR28 LPHN4 HAR31 AUTS2 HAR33 TBC1D22A HAR38 ITPR1 HAR40 ZBTB16 HAR43 AGBL4 HAR44 FHIT HAR45 POLA HAR47 KLHL14See also editUltra conserved elementReferences edit a b Pollard KS Salama SR Lambert N Lambot MA Coppens S Pedersen JS Katzman S King B Onodera C Siepel A Kern AD Dehay C Igel H Ares M Jr Vanderhaeghen P Haussler D 2006 08 16 An RNA gene expressed during cortical development evolved rapidly in humans PDF Nature 443 7108 167 172 Bibcode 2006Natur 443 167P doi 10 1038 nature05113 PMID 16915236 S2CID 18107797 supplement a b c Pollard KS Salama SR King B Kern AD Dreszer T Katzman S Siepel A Pedersen JS Bejerano G Baertsch R Rosenbloom KR Kent J Haussler D October 2006 Forces shaping the fastest evolving regions in the human genome PLoS Genet 2 10 e168 doi 10 1371 journal pgen 0020168 PMC 1599772 PMID 17040131 Kostka D Hubisz MJ Siepel A Pollard KS March 2012 The role of GC biased gene conversion in shaping the fastest evolving regions of the human genome Mol Biol Evol 29 3 1047 57 doi 10 1093 molbev msr279 PMC 3278478 PMID 22075116 Pollard Katherine 2009 What Makes Us Human Scientific American 300 5 44 49 Bibcode 2009SciAm 300e 44P doi 10 1038 scientificamerican0509 44 PMID 19438048 Scientists Identify Gene Difference Between Humans and Chimps Scientific American 17 August 2006 Researchers Identify Human DNA on the Fast Track Howard Hughes Medical Institute website 16 August 2006 HACNS1 Gene enhancer in evolution of human opposable thumb Science Codex September 4 2008 Retrieved May 17 2010 Loss of Function Mutation in a Repressor Module of Human Specifically Activated Enhancer HACNS1 Molecular Biology and Evolution September 22 2011 Archived from the original on April 15 2013 Zimov S February 6 2009 Comment on Human Specific Gain of Function in a Developmental Enhancer Science 323 5915 714 5 author reply 714 5 doi 10 1126 science 323 5915 714a PMID 19197041 S2CID 31587069 Retrieved from https en wikipedia org w index php title Human accelerated regions amp oldid 1212848649, wikipedia, wiki, book, books, library,
