Identification and Phylogenetic Analysis of SINE-R Retroposon Family in cDNA Library of Human Fetal Brain

  • Yi, Joo-Mi (Division of Biological Sciences, College of Natural Sciences, Pusan National University) ;
  • Shin, Kyung-Mi (Division of Biological Sciences, College of Natural Sciences, Pusan National University) ;
  • Lee, Ji-Won (Division of Biological Sciences, College of Natural Sciences, Pusan National University) ;
  • Paik, In-Ho (Department of Psychiatry, College of Medicine, The Catholic University of Korea) ;
  • Jang, Kyung-Lib (Division of Biological Sciences, College of Natural Sciences, Pusan National University) ;
  • Kim, Heui-Soo (Division of Biological Sciences, College of Natural Sciences, Pusan National University)
  • Published : 2001.09.01

Abstract

SINE-R retroposons have been derived from human endogenous retrovirus HERV-K family and found to be hominoid specific. Both SINE-R retroposons and HERV-K family are potentially capable of affecting the expression of closely located genes. From cDNA library of human fetal brain, we identified seven SINE-R retroposons and compared them with sequences derived from GenBank database. The SINE-R retroposons from human feta1 brain showed 85∼97% sequence similarities with the human-specific retroposon SINE-R.C2. They also showed 88∼96% sequence similarities with the sequence of the schizo-cDNA clone that derived from postmortem frontal cortex tissue of a schizophrenic patient. Phylogenetic analysis using the neiqhbor-joining method revealed that the seven new SINE-R retroposons from cDNA library of the human feta1 brain have proliferated independently during human evolution. The data indicate that such SINE-R retroposons are expressed in human fetal brain and deserve further investigation as potential leads to understanding of neuropsychiatric diseases.

Keywords

References

  1. Akopov SB, Nikolaev LG, Khil PP, Lebedev YB, and Sverdlov ED (1998) Long terminal repeats of human endogenous retrovirus K family (HERV-K) specifically bind host cell nuclear proteins. FEBS Lett 421: 229-233 https://doi.org/10.1016/S0014-5793(97)01569-X
  2. Altschul SF, Madden TL, Schffer AA, Zhang J, Zhang Z, Miller W, and Lipman J (1997) Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Nucleic Acids Res 25: 3389-3402 https://doi.org/10.1093/nar/25.17.3389
  3. Baltimore D (1985) Retroviruses and retrotransposons: the role of reverse transcription in shaping the eukaryotic genome. Cell 40: 481-482 https://doi.org/10.1016/0092-8674(85)90190-4
  4. Carroll MC, Campbell RD, Bentley DR, and Porter RR (1984) A molecular map of the human major histocompatibility complex class III region linking complement genes C4, C2 and factor B. Nature 307: 237-241 https://doi.org/10.1038/307237a0
  5. Crow TJ (1984) A re-evaluation of the viral hypothesis: is psychosis the result of retroviral integration at a site close to the cerebral dominance gene? Br J Psychiatry 145: 243-253
  6. Kim HS, Chen Y, and Lonai P (1998) Complex regulation regulation of multiple cytohesin like genes in murine tissues and cells. FEBS Lett 433: 312-316 https://doi.org/10.1016/S0014-5793(98)00937-5
  7. Kim HS and Crow TJ (1999) Presence and phylogenetic relationships of a hominoid-specific retroposon family on the human Y chromosome. Zool Sci 16: 963-970 https://doi.org/10.2108/zsj.16.963
  8. Kim HS and Crow TJ (2000) Phylogenetic relationships of a class of hominoid-specific retroelements (SINE-R) on human chromosomes 7 and 17. Ann Hum Biol 27: 83-93 https://doi.org/10.1080/030144600282406
  9. Kim HS and Crow TJ (2001) Cloning and phylogeny of endogenous retroviral elements belonging to the HERV-K LTR in cDNA library of human fetal brain and Xq21.3 region linked to psychosis. Korean J Genet 23: 129-134
  10. Kim HS, Hirai H, and Takenaka O (1996) Molecular features of the TSPY gene of gibbons and old world monkeys. Chrom Res 4: 500-506 https://doi.org/10.1007/BF02261777
  11. Kim HS, Hyun BH, Choi JY, and Crow TJ (2000a) Phylogenetic analysis of a retroposon family as represented on the human X chromosome. Genes Genet Syst 75: 197-202 https://doi.org/10.1266/ggs.75.197
  12. Kim HS, Hyun BH, and Crow TJ (2000b) Phylogenetic analysis of retroposon family as exemplified on human chromosome 13: further evidence for recent proliferation. Mol Cells 10: 356-360
  13. Kim HS and Lee YC (2001) Identification and phylogenetic analysis of long terminal repeat elements of the human endogenous retrovirus K family (HERV-K) from a human brain cDNA library. Korean J Biol Sci 5: 133-137
  14. Kim HS and Takenaka O (2001) Phylogeny of SINE-R retroposons in Asian apes. Mol Cells : in press
  15. Kim HS, Takenaka O, and Crow TJ (1999a) Cloning and nucleotide sequence of retroposons specific to hominoid primates derived from an endogenous retrovirus (HERV-K). AIDS Res Hum Retroviruses 15: 595-601 https://doi.org/10.1089/088922299311123.
  16. Kim HS, Wadekar RV, Takenaka O, Winstanley C, Mitsunaga F ,Kageyama T, Hyun BH, and Crow TJ (1999b) SINE-R.C2 (a Homo sapiens specific retroposon) is homologous to cDNA from post-mortem brain in schizophrenia and to two loci in the Xq21.3/Yp block linked to handedness and psychosis. Am J Med Genet 88: 560-566 https://doi.org/10.1002/(SICI)1096-8628(19991015)88:5<560::AID-AJMG23>3.0.CO;2-W
  17. Kim HS, Wadekar RV, Takenaka O, Hyun BH, and Crow TJ (1999c) Phylogenetic analysis of a retroposon family in African great apes. J Mol Evol 49: 699-702 https://doi.org/10.1007/PL00000083
  18. Kobayashi K, Nakahori Y, Miyake M, Matsumura K, Kondo-lida E ,Nomura Y ,Segawa M ,Yoshioka M, Saito K ,Osawa M, Hamano K, Sakakihara Y, Nonaka I, Nakagome Y, Kanazawa I, Nakamura Y, Tokunaga K, and Toda T (1998) An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 394: 388-392 https://doi.org/10.1038/28653
  19. Kumar S, Tamura K, and Nei M (1993) MEGA: Molecular Evolutionary Genetics Analysis, Version 1.01. The Pennsylvania State University, University Park
  20. Laval SH, Dann J, Butler RJ, Loftus J, Rue J, Leask SJ, Bass N, Comazzi M, Vita A, Nanko S, Shaw S, Peterson P, Shields G, Smith AB, Stewart J, DeLisi LE, and Crow TJ (1998) Evidence for linkage to psychosis and cerebral asymmetry (relative hand skill) on the X chromosome. Am J Med Genet 81: 420-427 https://doi.org/10.1002/(SICI)1096-8628(19980907)81:5<420::AID-AJMG11>3.0.CO;2-E
  21. Mager DL and Freeman JD (1995) HERV-H endogenous retroviruses: presence in the New World branch but amplification in the old world primate lineage. Virology 213: 395-404 https://doi.org/10.1006/viro.1995.0012
  22. Ono M, Kawakami M, and Takezawa T (1987) A novel human nonviral retroposon derived from an endogenous retrovirus. Nucleic Acids Res 21: 8725-8737 https://doi.org/10.1093/nar/15.21.8725
  23. Steinhuber S, Brack M, Hunsmann G, Schwelberger H, Dierich MP, and Vogetseder W (1995) Distribution of human endogenous retrovirus HERV-K genomes in humans and different primates. Hum Genet 96: 188-192 https://doi.org/10.1007/BF00207377
  24. Sverdlov ED (1998) Perpetually mobile footprints of ancient infections in human genome. FEBS Lett 428: 1-6 https://doi.org/10.1016/S0014-5793(98)00478-5
  25. Tajima F and Nei M (1984) Estimation of evolutionary distance between nucleotide sequences. Mol Biol Evol 1: 269-285
  26. Yee F, Johnston NL, Leister F, Li S, Ross CA, Torrey EF, Yolken RH, and Stanley Neuropathology Consortium (1998) Differential expression of viral and virus-associated RNA transcripts of the brains of individuals with schizophrenia and bipolar disorder. Schzophr Res 29: 92 https://doi.org/10.1016/S0920-9964(97)88531-3
  27. Zhu ZB, Hsieh SL, Bentley DR, Campbell RD, and Volanakis JE (1992) A variable number of tandem repeats locus within the human complement C2 gene is associated with a retroposon derived from a human endogenous retrovirus. J Exp Med 175: 1783-1787 https://doi.org/10.1084/jem.175.6.1783
  28. Zhu ZB, Jian B, and Volanakis JE (1994) Ancestry of SINE-R.C2 a human-specific retroposon. Hum Genet 93: 545-551 https://doi.org/10.1007/BF00202821