Human Accelerated Regions: How Non-Coding DNA Sequences Made Us Human

封面

如何引用文章

全文:

开放存取 开放存取
受限制的访问 ##reader.subscriptionAccessGranted##
受限制的访问 订阅或者付费存取

详细

We have always wondered what made us human. In the post-genomic era we try to find an answer in DNA sequences which are conserved in all animals but are different in humans. These sequences are called human accelerated regions (HARs). They are unique due to their fast evolution. During 6 million years HARs have been accumulating mutations and embedding in population due to their positive selection. To date it is known that HARs regulate certain genes which control embryonic development and neurogenesis in humans. In this article we review our knowledge about HARs, their characteristics and functions as well as evolutionary context of some mental disorders and their connection with HARs.

作者简介

A. Chvilyova

Novosibirsk State University; Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences

Email: a.chvileva@g.nsu.ru
Novosibirsk, Russia; Novosibirsk, Russia

参考

  1. Pollard K.S., Salama S.R., Lambert N. et al. An RNA gene expressed during cortical development evolved rapidly in humans. Nature. 2006; 443(7108): 167-72. doi: 10.1038/nature05113.
  2. Capra J.A., Erwin G.D., McKinsey G. et al. Many human accelerated regions are developmental enhancers. Philos. Trans. R. Soc. Lond. B. Biol. Sci. 2013; 368(1632): 20130025. doi: 10.1098/rstb.2013.0025.
  3. Hubisz M.J., Pollard K.S. Exploring the genesis and functions of Human Accelerated Regions sheds light on their role in human evolution. Curr. Opin. Genet. Dev. 2014; 29: 15–21. doi: 10.1016/j.gde.2014.07.005.
  4. Wilson A.C., Bush G.L., Case S.M., King M.C. Social structuring of mammalian populations and rate of chromosomal evolution. Proc. Natl. Acad. Sci. USA. 1975 ; 72(12): 5061–5065. doi: 10.1073/pnas.72.12.5061.
  5. Doan R.N., Bae B.I., Cubelos B. et al. Mutations in human accelerated regions disrupt cognition and social behavior. Cell. 2016; 167(2): 341–354. e12. doi: 10.1016/j.cell.2016.08.071.
  6. Won H., Huang J., Opland C.K. et al. Human evolved regulatory elements modulate genes involved in cortical expansion and neurodevelopmental disease susceptibility. Nat. Commun. 2019; 10(1): 2396. doi: 10.1038/s41467-019-10248-3.
  7. Kostka D., Hubisz M.J., Siepel A. et al. The role of GC-biased gene conversion in shaping the fastest evolving regions of the human genome. Mol. Biol. Evol. 2012; 29(3): 1047–1057. doi: 10.1093/molbev/msr279.
  8. Boyd J.L., Skove S.L., Rouanet J.P. et al. Human-chimpanzee differences in a FZD8 enhancer alter cell-cycle dynamics in the developing neocortex. Curr. Biol. 2015; 25(6): 772–779. doi: 10.1016/j.cub.2015.01.041.
  9. Lee K.S., Bang H., Choi J.K. et al. Accelerated evolution of the regulatory sequences of brain development in the human genome. Mol. Cells. 2020; 43(4): 331–339. doi: 10.14348/molcells.2020.2282.
  10. Sullivan P.F., Kendler K.S., Neale M.C. Schizophrenia as a complex trait: evidence from a meta-analysis of twin studies. Archives of General Psychiatry. 2003; 60(12): 1187–1192. doi: 10.1001/archpsyc.60.12.1187.
  11. Power R.A., Steinberg S., Bjornsdottir G. et al. Polygenic risk scores for schizophrenia and bipolar disorder predict creativity. Nat. Neurosci. 2015; 18(7): 953–955. doi: 10.1038/nn.4040.
  12. Kamm G.B., Pisciottano F., Kliger R. et al. The developmental brain gene NPAS3 contains the largest number of accelerated regulatory sequences in the human genome. Mol. Biol. Evol. 2013; 30(5): 1088–1102. doi: 10.1093/molbev/mst023.
  13. Bhattacharyya U., Deshpande S.N., Bhatia T. et al. Revisiting schizophrenia from an evolutionary perspective: an association study of recent evolutionary markers and schizophrenia. Schizophr. Bull. 2021; 47(3): 827–836. doi: 10.1093/schbul/sbaa179.
  14. Johnson R., Richter N., Jauch R. et al. Human accelerated region 1 noncoding RNA is repressed by REST in Huntington’s disease. Physiol. Genomics. 2010; 41(3): 269–274. doi: 10.1152/physiolgenomics.00019.2010.
  15. Oksenberg N., Stevison L., Wall J.D. et al. Function and regulation of AUTS2, a gene implicated in autism and human evolution. PLoS Genet. 2013; 9(1): e1003221. doi: 10.1371/journal.pgen.1003221.
  16. Girskis K.M., Stergachis A.B., DeGennaro E.M. et al. Rewiring of human neurodevelopmental gene regulatory programs by human accelerated regions. Neuron. 2021; 109(20): 3239–3251. doi: 10.1016/j.neuron.2021.08.005.
  17. Ryzhkova A.S., Khabarova A.A., Chvileva A.S. et al. HARs: History, Functions, and Role in the Evolution and Pathogenesis of Human Diseases. Cell and Tissue Biology. 2022; 16(6): 499–512. doi: 10.1134/S1990519X22060086.

补充文件

附件文件
动作
1. JATS XML
下载

版权所有 © Издательство «Наука», 2023

##common.cookie##