Skip to main content
NCBI home page
Molecular and Cellular Biology logoLink to Molecular and Cellular Biology
. 1985 Jun;5(6):1408–1414. doi: 10.1128/mcb.5.6.1408

Structural and evolutionary relationships among five members of the human gamma-crystallin gene family.

S O Meakin, M L Breitman, L C Tsui
PMCID: PMC366871  PMID: 4033658

Abstract

We have characterized five human gamma-crystallin genes isolated from a genomic phage library. DNA sequencing of four of the genes revealed that two of them predict polypeptides of 174 residues showing 71% homology in their amino acid sequence; the other two correspond to closely related pseudogenes which contain the same in-frame termination codon at identical positions in the coding sequence. Two of the genes and one of the pseudogenes are oriented in a head-to-tail fashion clustered within 22.5 kilobases. All three contain a TATA box 60 to 80 base pairs upstream of the initiation codon and a highly conserved segment of 44 base pairs in length immediately preceding the TATA box. The two genes and the two pseudogenes are similar in structure: each contains a small 5' exon encoding three amino acids followed by two larger exons that correspond exactly to the two similar structural domains of the polypeptide. The first intron varies from 100 to 110 base pairs, and the second intron ranges from 1 to several kilobases, rendering an overall gene size of 1.7 to 4.5 kilobases. At least one of the two pseudogenes appears to have been functional before inactivation, suggesting that their identical mutation was generated by gene conversion.

Full text

PDF
1408

Images in this article

1409Image
on p.1409

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Baltimore D. Gene conversion: some implications for immunoglobulin genes. Cell. 1981 Jun;24(3):592–594. doi: 10.1016/0092-8674(81)90082-9. [DOI] [PubMed] [Google Scholar]
  2. Benton W. D., Davis R. W. Screening lambdagt recombinant clones by hybridization to single plaques in situ. Science. 1977 Apr 8;196(4286):180–182. doi: 10.1126/science.322279. [DOI] [PubMed] [Google Scholar]
  3. Bhat S. P., Spector A. Complete nucleotide sequence of a cDNA derived from calf lens gamma-crystallin mRNA: presence of Alu I-like DNA sequences. DNA. 1984 Aug;3(4):287–295. doi: 10.1089/dna.1.1984.3.287. [DOI] [PubMed] [Google Scholar]
  4. Breitman M. L., Lok S., Wistow G., Piatigorsky J., Tréton J. A., Gold R. J., Tsui L. C. Gamma-crystallin family of the mouse lens: structural and evolutionary relationships. Proc Natl Acad Sci U S A. 1984 Dec;81(24):7762–7766. doi: 10.1073/pnas.81.24.7762. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Breitman M. L., Tsui L. C., Buchwald M., Siminovitch L. Introduction and recovery of a selectable bacterial gene from the genome of mammalian cells. Mol Cell Biol. 1982 Aug;2(8):966–976. doi: 10.1128/mcb.2.8.966. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Dodemont H. J., Andreoli P. M., Moormann R. J., Ramaekers F. C., Schoenmakers J. G., Bloemendal H. Molecular cloning of mRNA sequences encoding rat lens crystallins. Proc Natl Acad Sci U S A. 1981 Sep;78(9):5320–5324. doi: 10.1073/pnas.78.9.5320. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Garber A. T., Gold R. J. Comparative two-dimensional electrophoretic analysis of water soluble proteins from bovine and murine lenses. Exp Eye Res. 1982 Dec;35(6):585–596. doi: 10.1016/s0014-4835(82)80072-9. [DOI] [PubMed] [Google Scholar]
  8. Kondoh H., Yasuda K., Okada T. S. Tissue-specific expression of a cloned chick delta-crystallin gene in mouse cells. Nature. 1983 Feb 3;301(5899):440–442. doi: 10.1038/301440a0. [DOI] [PubMed] [Google Scholar]
  9. Lawn R. M., Fritsch E. F., Parker R. C., Blake G., Maniatis T. The isolation and characterization of linked delta- and beta-globin genes from a cloned library of human DNA. Cell. 1978 Dec;15(4):1157–1174. doi: 10.1016/0092-8674(78)90043-0. [DOI] [PubMed] [Google Scholar]
  10. Liskay R. M., Stachelek J. L. Evidence for intrachromosomal gene conversion in cultured mouse cells. Cell. 1983 Nov;35(1):157–165. doi: 10.1016/0092-8674(83)90218-0. [DOI] [PubMed] [Google Scholar]
  11. Lok S., Tsui L. C., Shinohara T., Piatigorsky J., Gold R., Breitman M. Analysis of the mouse gamma-crystallin gene family: assignment of multiple cDNAs to discrete genomic sequences and characterization of a representative gene. Nucleic Acids Res. 1984 Jun 11;12(11):4517–4529. doi: 10.1093/nar/12.11.4517. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Maxam A. M., Gilbert W. Sequencing end-labeled DNA with base-specific chemical cleavages. Methods Enzymol. 1980;65(1):499–560. doi: 10.1016/s0076-6879(80)65059-9. [DOI] [PubMed] [Google Scholar]
  13. McAvoy J. W. Cell division, cell elongation and distribution of alpha-, beta- and gamma-crystallins in the rat lens. J Embryol Exp Morphol. 1978 Apr;44:149–165. [PubMed] [Google Scholar]
  14. Moormann R. J., den Dunnen J. T., Mulleners L., Andreoli P., Bloemendal H., Schoenmakers J. G. Strict co-linearity of genetic and protein folding domains in an intragenically duplicated rat lens gamma-crystallin gene. J Mol Biol. 1983 Dec 25;171(4):353–368. doi: 10.1016/0022-2836(83)90034-7. [DOI] [PubMed] [Google Scholar]
  15. Mulligan R. C., Berg P. Expression of a bacterial gene in mammalian cells. Science. 1980 Sep 19;209(4463):1422–1427. doi: 10.1126/science.6251549. [DOI] [PubMed] [Google Scholar]
  16. Ollo R., Rougeon F. Gene conversion and polymorphism: generation of mouse immunoglobulin gamma 2a chain alleles by differential gene conversion by gamma 2b chain gene. Cell. 1983 Feb;32(2):515–523. doi: 10.1016/0092-8674(83)90471-3. [DOI] [PubMed] [Google Scholar]
  17. Piatigorsky J. Lens crystallins and their gene families. Cell. 1984 Oct;38(3):620–621. doi: 10.1016/0092-8674(84)90254-x. [DOI] [PubMed] [Google Scholar]
  18. Piatigorsky J. Lens differentiation in vertebrates. A review of cellular and molecular features. Differentiation. 1981;19(3):134–153. doi: 10.1111/j.1432-0436.1981.tb01141.x. [DOI] [PubMed] [Google Scholar]
  19. Rigby P. W., Dieckmann M., Rhodes C., Berg P. Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I. J Mol Biol. 1977 Jun 15;113(1):237–251. doi: 10.1016/0022-2836(77)90052-3. [DOI] [PubMed] [Google Scholar]
  20. Ringens P. J., Hoenders H. J., Bloemendal H. Protein distribution and characterization in the prenatal and postnatal human lens. Exp Eye Res. 1982 May;34(5):815–823. doi: 10.1016/s0014-4835(82)80041-9. [DOI] [PubMed] [Google Scholar]
  21. Sanger F., Nicklen S., Coulson A. R. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci U S A. 1977 Dec;74(12):5463–5467. doi: 10.1073/pnas.74.12.5463. [DOI] [PMC free article] [PubMed] [Google Scholar]
  22. Schoenmakers J. G., den Dunnen J. T., Moormann R. J., Jongbloed R., van Leen R. W., Lubsen N. H. The crystallin gene families. Ciba Found Symp. 1984;106:208–218. doi: 10.1002/9780470720875.ch12. [DOI] [PubMed] [Google Scholar]
  23. Shinohara T., Robinson E. A., Appella E., Piatigorsky J. Multiple gamma-crystallins of the mouse lens: fractionation of mRNAs by cDNA cloning. Proc Natl Acad Sci U S A. 1982 May;79(9):2783–2787. doi: 10.1073/pnas.79.9.2783. [DOI] [PMC free article] [PubMed] [Google Scholar]
  24. Slightom J. L., Blechl A. E., Smithies O. Human fetal G gamma- and A gamma-globin genes: complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genes. Cell. 1980 Oct;21(3):627–638. doi: 10.1016/0092-8674(80)90426-2. [DOI] [PubMed] [Google Scholar]
  25. Summers L., Slingsby C., White H., Narebor M., Moss D., Miller L., Mahadevan D., Lindley P., Driessen H., Blundell T. The molecular structures and interactions of bovine and human gamma-crystallins. Ciba Found Symp. 1984;106:219–236. doi: 10.1002/9780470720875.ch13. [DOI] [PubMed] [Google Scholar]
  26. Tomarev S. I., Zinovieva R. D., Chalovka P., Krayev A. S., Skryabin K. G., Gause G. G., Jr Multiple genes coding for the frog eye lens gamma-crystallins. Gene. 1984 Mar;27(3):301–308. doi: 10.1016/0378-1119(84)90074-x. [DOI] [PubMed] [Google Scholar]
  27. Vieira J., Messing J. The pUC plasmids, an M13mp7-derived system for insertion mutagenesis and sequencing with synthetic universal primers. Gene. 1982 Oct;19(3):259–268. doi: 10.1016/0378-1119(82)90015-4. [DOI] [PubMed] [Google Scholar]
  28. Weiss E. H., Mellor A., Golden L., Fahrner K., Simpson E., Hurst J., Flavell R. A. The structure of a mutant H-2 gene suggests that the generation of polymorphism in H-2 genes may occur by gene conversion-like events. Nature. 1983 Feb 24;301(5902):671–674. doi: 10.1038/301671a0. [DOI] [PubMed] [Google Scholar]
  29. Wistow G., Turnell B., Summers L., Slingsby C., Moss D., Miller L., Lindley P., Blundell T. X-ray analysis of the eye lens protein gamma-II crystallin at 1.9 A resolution. J Mol Biol. 1983 Oct 15;170(1):175–202. doi: 10.1016/s0022-2836(83)80232-0. [DOI] [PubMed] [Google Scholar]
  30. Zigler J. S., Jr, Horwitz J., Kinoshita J. H. Studies on the low molecular weight proteins of human lens. Exp Eye Res. 1981 Jan;32(1):21–30. doi: 10.1016/s0014-4835(81)80035-8. [DOI] [PubMed] [Google Scholar]
  31. Zigler J. S., Jr, Russell P., Takemoto L. J., Schwab S. J., Hansen J. S., Horwitz J., Kinoshita J. H. Partial characterization of three distinct populations of human gamma-crystallins. Invest Ophthalmol Vis Sci. 1985 Apr;26(4):525–531. [PubMed] [Google Scholar]

Articles from Molecular and Cellular Biology are provided here courtesy of Taylor & Francis

RESOURCES