Journal of Molecular Evolution

, Volume 36, Issue 5, pp 489–496 | Cite as

Evolution of EF-hand calcium-modulated proteins. V. The genes encoding EF-hand proteins are not clustered in mammalian genomes

  • Martin W. Berchtold
Article
Received:
Revised:
Accepted:

Summary

The chromosomal assignments of genes belonging to the EF-hand family which have a common origin are compiled in this article. So far data are available from 27 human gene loci belonging to 6 subfamilies and 8 murine loci belonging to 4 subfamilies. Chromosomal localization has been obtained by somatic-cell hybrid analysis using the Southern blot technique or PCR amplification, metaphase spread in situ hybridization, or isolation of the particular genes from chromosome-specific libraries. Except for genes of the S-100 alpha proteins which are grouped on human chromosome 1q12-25 and mouse chromosome 3, no linkage has been found for genes encoding EF-hand proteins, indicating absence of selective pressure for maintaining chromosomal clustering. Six of these genes map to known syntenic groups conserved in the human and mouse genomes. This suggests that chromosomal translocations occurred before divergence of these species. The possible significance of chromosomal positioning with respect to nearby located known genes and genetic disease loci is discussed.

Key words

EF-hand Ca2+ binding proteins Gene families Chromosomal localization Human genome Mouse genome Syntenic groups Chromosomal clustering Chromosomal Translocation Chromosomal maps Genetic diseases 
This is a preview of subscription content, log in to check access.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Adolph S, Berchtold MW, Hameister H (1989) Fine localization of genes on distal murine chromosome 15. Cytogenet Cell Genet 52:177–179PubMedGoogle Scholar
  2. Allore R, O'Hanlon D, Price R, Neilson K, Willard HF, Cox DR, Marks A, Dunn RJ (1988) Gene encoding the β subunit of S100 protein is on chromosome 21: implications for Down syndrome. Science 239:1311–1313PubMedGoogle Scholar
  3. Baas F, Bikker H, Ommen G-JB, Vijder JJM (1984) Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. A linkage study suggesting autosomal dominance of a defective thyroglobulin allele. Hum Genet 67:301–305CrossRefPubMedGoogle Scholar
  4. Barton PJR, Cohen A, Robert B, Fiszman MY, Bonhomme F, Guenet JL, Leader DP, Buckingham ME (1985) The myosin alkali light chains of mouse ventricular and slow skeletal muscle are indistinguishable and are encoded by the same gene. J Biol Chem 260:8578–8584PubMedGoogle Scholar
  5. Berchtold MW, Epstein P, Beaudet AL, Payne ME, Heizmann CW, Means AR (1987) Structural organization and chromosomal assignment of the parvalbumin gene. J Biol Chem 262:8696–8701PubMedGoogle Scholar
  6. Berchtold MW (1989) Structure and expression of genes encoding the three-domain Ca2+-binding proteins parvalbumin and oncomodulin. Biochim Biophys Acta 1009:201–215PubMedGoogle Scholar
  7. Berchtold MW, Koller M, Egli R, Rhyner JA, Hameister H, Strehler EE (1992) Localization of the intronless gene coding for calmodulin-like protein CLP to human chromosome 10p13-ter Hum Genet (in press)Google Scholar
  8. Berger R, Bloomfield CD, Sutherland GR (1985) Report of the committee on chromosome rearrangements in neoplasia and on fragile sites. Cytogenet Cell Genet 40:490–535PubMedGoogle Scholar
  9. Boyhan A, Casimir CM, French JK, Teahan CG, Segal AW (1992) Molecular cloning and characterization of grancalcin, a novel EF-hand calcium-binding protein abundant in neutrophils and monocytes. J Biol Chem 267:2928–2933PubMedGoogle Scholar
  10. Brüggen J, Tarcsay L, Cerletti N, Odink K, Rutishauser M, Holländer G, Sorg C (1988) The molecular nature of the cystic fibrosis antigen. Nature 331:570CrossRefPubMedGoogle Scholar
  11. Budarf ML, Collins J, Ritzler M, Berchtold MW, Emanuel BS (1991) Regional sublocalization of the human parvalbumin gene to 22q12-13.1 Cytogenet Cell Genet 58:2046Google Scholar
  12. Cohen-Haguenauer O, Barton PJR, Van Cong N, Serero S, Gross M-S, Jegou-Foubert C, de Tand M-F, Robert B, Buckingham M, Frezal J (1988) Assignment of the human fast skeletal muscle myosin alkali light chains gene (MLC1F/MLC3F) to 2q32.1-2qter. Hum Genet 78:65–70CrossRefPubMedGoogle Scholar
  13. Cohen-Haguenauer O, Barton PJR, Van Cong N, Cohen A, Masset M, Buckingham M, Frezal J (1989) Chromosomal assignment of two myosin alkali light chain genes encoding the ventricular/slow skeletal muscle isoform and the atrial/fetal muscle isoform (MYL3, MYL4) Hum Genet 81:278–282CrossRefPubMedGoogle Scholar
  14. Czosnek H, Nudel U, Shani M, Barker PE, Pravtcheva DD, Ruddle FH, Yaffe D (1982) The genes coding for the muscle contractile proteins, myosin heavy chain, myosin light chain 2 and skeletal muscle actin are located on three different mouse chromosomes. EMBO J 1:1299–1305PubMedGoogle Scholar
  15. Donato R (1991) Perspectives in S-100 protein biology. Cell Calcium 12:713–726CrossRefPubMedGoogle Scholar
  16. Dorin JR, Novak M, Hill RE, Brock DJH, Secher DS, van Heyningen V (1987) A clue to the basic defect from cloning the CF antigen gene. Nature (Lond) 326:614–617CrossRefGoogle Scholar
  17. Dorin JR, Emslie E, van Heyningen V (1990) Related calciumbinding proteins map to the same subregion of chromosome 1q and to an extended region of synteny on mouse chromosome 3. Genomics 8:420–426CrossRefPubMedGoogle Scholar
  18. Eiberg H, Mohr J, Nielsen LS (1981) Sixth Int Cong Hum Genet. Jerusalem Abstract:147Google Scholar
  19. Ekstrand J, Ehrenborg E, Stern I, Stellan B, Zech L, Luthman H (1990) The gene for insulin-like growth factor-binding protein-1 is localized to human chromosomal region 7p14-p12. Genomics 6:413–418CrossRefPubMedGoogle Scholar
  20. Emanuel BS, Seizinger BR (1990) Report of the committee on the genetic constitution of chromosome 22. Cytogenet Cell Genet 55:245–253PubMedGoogle Scholar
  21. Ferrari S, Calabretta B, Kim deRiel J, Battini R, Ghezzo F, Lauret E, Griffin C, Emanuel BS, Gurrieri F, Baserga R (1987) Structural and functional analysis of a growth-regulated gene, the human calcyclin. J Biol Chem 262:8325–8332PubMedGoogle Scholar
  22. Fischer R, Koller M, Flura M, Mathews S, Strehler-Page M-A, Krebs J, Penniston JT, Carafoli E, Strehler EE (1988) Multiple divergent mRNAs code for a single human calmodulin. J Biol Chem 263:17055–17062PubMedGoogle Scholar
  23. Howard A, Legon S, Spurr NK, Walters JRF (1992) Molecular cloning and chromosomal assignment of human calbindin-D9K. Biochem Biophys Res Commun 185:663–669CrossRefPubMedGoogle Scholar
  24. Kligman D, Hilt DC (1988) The S-100 protein family. Trends Biochem Sci 13:437–443CrossRefPubMedGoogle Scholar
  25. Koller M, Strehler EE (1988) Characterization of an intronless human calmodulin-like pseudogene. FEBS Lett 239:121–128CrossRefPubMedGoogle Scholar
  26. Koller M, Baumer A, Strehler EE (1991) Characterization of two novel human retropseudogenes related to the calmodulinencoding gene, CaM II. Gene 97:245–251CrossRefPubMedGoogle Scholar
  27. Kretsinger RH (1980) Structure and evolution of calcium-modulated proteins. CRC Crit Rev Biochem 8:119–174PubMedGoogle Scholar
  28. Kretsinger RH, Nakayama S (1993) Evolution of EF-hand calcium-modulated proteins. IV. Exon shuffling did not determine the domain compositions of EF-hand proteins. J Mol Evol 36:477–488PubMedCrossRefGoogle Scholar
  29. Lee SW, Tomasetto C, Swisshelm K, Keyomarsi K, Sager R (1992) Downregulation of a member of the S100 gene family in mammary carcinoma cells and reexpression by azadeoxycytidine treatment. Proc Natl Acad Sci USA 89:2504–2508PubMedGoogle Scholar
  30. McDermid HE, Duncan AMV, Brasch KR, Holden JJA, Magenis E, Sheehy R, Burn J, Kardon N, Noel B, Schinzel A, Teshima I, White BN (1986) Characterization of the supernumerary chromosome in cat eye syndrome. Science 232:646–648PubMedGoogle Scholar
  31. McPherson JD, Hickie RA, Wasmuth JJ, Meyskens FL, Perham RN, Strehler EE, Graham MT (1991) Chromosomal localization of multiple genes encoding calmodulin. Cytogenet Cell Genet 58:1951Google Scholar
  32. Mitelman F, Kaneko Y, Trent JM (1990) Report of the committee on chromosomal changes in neoplasia. Cytogenet Cell Genet 55:358–386PubMedGoogle Scholar
  33. Morii K, Tanaka R, Takahashi Y, Minoshima S, Fukuyama R, Shimizu N, Kuwano R (1991) Structure and chromosome assignment of human S100 α and β subunit genes. Biochem Biophys Res Commun 175:185–191CrossRefPubMedGoogle Scholar
  34. Moseley WS, Seldin MF (1989) Definition of mouse chromosome 1 and 3 gene linkage groups that are conserved on human chromosome 1: evidence that a conserved linkage group spans the centromere of human chromosome 1. Genomics 5:899–905CrossRefPubMedGoogle Scholar
  35. Nakayama S, Moncrief ND, Kretsinger RH (1992) Evolution of EF-hand calcium-modulated proteins. II. Domains of several subfamilies have diverse evolutionary histories. J Mol Evol 34:1873–1880CrossRefGoogle Scholar
  36. Nakayama S, Kretsinger RH (1993) Evolution of EF-hand calcium-modulated proteins. III. Exon sequences confirm most dendrograms based on protein sequences. Calmodulin dendrograms show significant differences. J Mol Evol. 36:458–476PubMedCrossRefGoogle Scholar
  37. Nojima H (1989) Structural organization of multiple rat calmodulin genes J Mol Biol 208:269–282CrossRefPubMedGoogle Scholar
  38. Ohno S, Minoshima S, Kudoh J, Fukuyama R, Shimizu Y, Ohmi-Imajoh S, Shimizu N, Suzuki K (1990) Four genes for the calpain family locate on four distinct human chromosomes. Cytogenet Cell Genet 53:225–229PubMedGoogle Scholar
  39. Parmentier M, De Vijlder JJM, Muir E, Szpirer C, Islam MQ, Geurts van Kessell A, Lawson DEM, Vassart G (1989a) The human calbindin 27-kDa gene: structural organization of the 5′ and 3′ regions, chromosomal assignment, and restriction fragment length polymorphism. Genomics 45:309–319CrossRefGoogle Scholar
  40. Parmentier M, Szpirer J, Levan G, Vassart G (1989b) The human genes for calbindin 27 and 29 kDa proteins are located on chromosomes 8 and 16, respectively. Cytogenet Cell Genet 52:85–87PubMedGoogle Scholar
  41. Parmentier M, Passage E, Vassart G, Mattei M-G (1991) The human calbindin D28K (CALB1) and calretinin (CALB2) genes are located at 8q21.3-q22.1 and 16q22-q23, respectively, suggesting a common duplication with the carbonic anhydrase isozyme loci. Cytogenet Cell Genet 57:41–43CrossRefPubMedGoogle Scholar
  42. Ritzler JM, Sawhney R, Geurts van Kessell AHM, Grzeschik K-H, Schinzel A, Berchtold MW (1992) The genes for the highly homologous Ca2+-binding proteins oncomodulin and parvalbumin are not linked in the human genome. Genomics 12:567–572CrossRefPubMedGoogle Scholar
  43. Robert B, Barton P, Minty A, Daubas P, Weydert A, Bonhomme F, Catalan J, Chazottes D, Guenet J-L, Buckingham M (1985) Investigations of genetic linkage between myosin and actin genes using an interspecific mouse back-cross. Nature (Lond) 314:181–184CrossRefPubMedGoogle Scholar
  44. Saris C, Kristensen T, D'Eustachio P, Hicks L, Noonan D, Hunter T, Tack B (1987) cDNA sequence and tissue distribution of the mRNA for bovine and murine p11, the S100-related light chain of the protein-tyrosine kinase substrate p36 (calpactin I). J Biol Chem 262:10663–10671PubMedGoogle Scholar
  45. Scambler PJ, McPherson MA, Bates G, Bradbury NA, Dormer RL, Williamson R (1987) Biochemical and genetic exclusion of calmodulin as the site of the basic defect in cystis fibrosis. Hum Genet 76:278–282CrossRefPubMedGoogle Scholar
  46. Seharaseyon J, Bober E, Hsieh C-L, Fodor WL, Francke U, Arnold H-H, Vanin ER (1990) Human embryonic/atrial myosin alkali light chain gene: characterization, sequence, and chromosomal location. Genomics 7:289–293CrossRefPubMedGoogle Scholar
  47. Seidel U, Bober E, Winter B, Lenz S, Lohse P, Goedde HW, Grzeschik KH, Arnold H-H (1988) Alkali myosin light chains in man are encoded by a multigene family that includes the adult skeletal muscle, the embryonic or atrial, and nonsarcomeric isoforms. Gene 66:135–146CrossRefPubMedGoogle Scholar
  48. SenGupta B, Detera-Wadleigh SD, McBride OW, Friedberg F (1989) A calmodulin pseudogene on human chromosome 17. Nucleic Acid Res 17:2868Google Scholar
  49. Trent JM, Kaneko Y, Mitelman F (1989) Report of the committee on structural chromosome changes in neoplasia. Cytogenet Cell Genet 51:533–562PubMedCrossRefGoogle Scholar
  50. Vaessen MJ, Kootwijk E, Bootsma D, Westerveld A, Geurts van Kessel AHM (1989) The gene encoding placental calcium binding protein is on human chromosome 1. Cytogenet Cell Genet 51:1094Google Scholar
  51. Van der Bliek AM, Baas F, Van der Velde-Koerts T, Biedler JL, Meyers MB, Ozols RF, Hamilton TC, Joenje H, Borst P (1988) Genes amplified and overexpressed in human multidrug-resistant cell lines. Cancer Res 48:5927–5932PubMedGoogle Scholar
  52. Yaswen P, Smoll A, Peehl DM, Trask DK, Sager R, Stampfer MR (1990) Down-regulation of a calmodulin-related gene during transformation of human mammary epithelial cells. Proc Natl Acad Sci USA 87:7360–7364PubMedGoogle Scholar
  53. Zhang FR, Aurias A, Delattre O, Stern MH, Benitez J, Rouleau G, Thomas G (1990) Mapping of human chromosome 22 by in situ hybridization. Genomics 7:319–324CrossRefPubMedGoogle Scholar
  54. Zühlke CH, Schöffel F, Jockusch H, Simon D, Guenet J-L (1989) cDNA sequence and chromosomal localization of the mouse parvalbumin gene, Pva. Genet Res Camb 54:37–43Google Scholar

Copyright information

© Springer-Verlag New York Inc. 1993

Authors and Affiliations

  • Martin W. Berchtold
    • 1
  1. 1.Institute for Veterinary BiochemistryUniversity of Zurich-IrchelZurichSwitzerland

Personalised recommendations