Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: A single gene model for human Pelger-Huët anomaly

Human Molecular Genetics

Volumn 12, Issue 1, 2003, Pages 61-69

  Schultz, Leonard D ^a   Lyons, Bonnie L ^a   Burzenski, Lisa M ^a   Gott, Bruce ^a   Samuels, Rebecca ^a   Schweitzer, Peter A ^a   Dreger, Christine ^b   Herrmann, Harald ^b   Kalscheuer, Vera ^c   Olins, Ada L ^d   Olins, Donald E ^d   Sperling, Karl ^e   Hoffman, Katrin ^e  

^a JACKSON LABORATORY   (United States)

^b GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^c MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^d BOWDOIN COLLEGE   (United States)

^e HUMBOLDT UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; CYTOSINE; GENE PRODUCT; GUANINE; LAMIN B; MEMBRANE PROTEIN;

ALLELE; ALOPECIA; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; CELL NUCLEUS MEMBRANE; CHROMATIN CONDENSATION; CHROMOSOME 1; CONTROLLED STUDY; FRAMESHIFT MUTATION; GENE IDENTIFICATION; GENE LOCATION; GENE LOCUS; GENETIC CODE; GENETIC CONSERVATION; GENETIC MODEL; HETEROCHROMATIN; HOMOZYGOSITY; HYDROCEPHALUS; ICHTHYOSIS; IMMUNOBLOTTING; IMMUNOFLUORESCENCE MICROSCOPY; LEUKOCYTE DISORDER; MOLECULAR EVOLUTION; MOUSE; NONHUMAN; NONSENSE MUTATION; PATHOLOGY; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SYNDACTYLY; SYNTENY; WILD TYPE;

ANIMALS; DISEASE MODELS, ANIMAL; GENOTYPE; HUMANS; ICHTHYOSIS; MICE; MICROSCOPY, ELECTRON; MUTATION; PELGER-HUET ANOMALY; PHENOTYPE; RECEPTORS, CYTOPLASMIC AND NUCLEAR; SEQUENCE ANALYSIS, DNA;

ANIMALIA;

EID: 12244285280     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddg003     Document Type: Review

References (53)

1. Carter, T.C. and Phillips, R.S. (1950) Ichthyosis, a new recessive mutant in the house mouse. J. Hered., 41, 297-300.
2. Blake, J.A., Richardson, J.E., Bult, C.J., Kadin, J.A. and Eppig, J.T. (2002) The Mouse Genome Database (MGD): the model organism database for the laboratory mouse. Nucleic Acids Res., 30, 113-115.
3. Eicher, E. (1976) Spontaneous mutations - streaker (nu < str > ) and ichthyosis (ic < J > ). Mouse News Lett., 64, 40.
4. Dickie, M.M. (1968) Remutations at The Jackson Laboratory. Mouse News Lett., 38, 24.
5. Sweet, H.O. (1993) Remutations at The Jackson Laboratory. Mouse News Lett., 91, 862-864.
6. Sundberg, J.P. and Pittlekow, M.R. (1994) In Sundberg, J.P. (ed.), Handbook of Mouse Mutations with Skin and Hair Abnormalities. CRC Press, Boca Raton, FL, pp. 327-335.
7. Green, M.C., Alpert, B.N. and Mayer, T.C. (1974) The site of action of the ichthyosis locus (ic) in the mouse, as determined by dermal-epidermal recombinations. J. Embryol. Exp. Morphol., 32, 715-721.
8. Green, M.C., Shultz, L.D. and Nedzi, L.A. (1975) Abnormal nuclear morphology of leukocytes in the mouse mutant ichthyosis. Transplantation, 20, 172-175.
9. Online Mendelian Inheritance in Man, Omim (TM) (2002) Johns Hopkins University, Baltimore, MD. Mim Number 169400. World Wide Web www.ncbi.nlm.nih.gov/omim/.
10. Aznar, J. and Vaya, A. (1981) Homozygous form of the Pelger-Huët leukocyte anomaly in man. Acta Haematol., 66, 59-62.
11. Bernard, J., Undritz, E., Bru, M., Mathe, G. and Toulouse, J. (1956) Anomalie de Pelger homozygote chez l'homme. Sang, 27, 819-823.
12. Ciatto, A. and Ferretti, G.F. (1978) [Case of Pelger-Huët anomaly in its exceptional homozygotic variant]. Minerva Med., 69, 697-700.
13. Ciplea, A.G. and Ciorapciu, S. (1958) Anomalie leucocytaire Pelger-Huët homozygote humaine. Presse Med., 66, 554-555.
14. Erice, J.G., Perez, J.M. and Pericas, F.S. (1999) Homozygous form of the Pelger-Huët anomaly. Haematologica, 84, 748.
15. Gastearena, J., Orue, M.T., Perez Equiza, E., Hernandez, M.C., Ardanaz, M.F. and Uriz, M.J. (1982) [Homozygous Pelger-Huët anomaly. Apropos of a case]. Sangre (Barc.), 27, 1079-1081.
16. Haverkamp Begemann, N. and van Lookeren Campagne, A. (1952) Homozygous form of Pelger-Huët's nuclear anomaly in man. Acta Haematol., 7, 295-303.
17. Hoffmann, K., Dreger, C.K., Olins, A.L., Olins, D.E., Shultz, L.D., Lucke, B., Karl, H., Kaps, R., Muller, D., Vaya, A. et al. (2002) Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly). Nat. Genet., 31, 410-414.
18. Karl, H. (1967) Die besondere Häufung von Merkmalsträgern de Pelger-Huët-Kernanomalie der Leukozyten in Gelenau Im Erzgebirge. Medical Thesis, Humboldt University Berlin.
19. Riario-Sforza, G., Salvati, F. and Troya, C. (1981) [The Pelger-Huët granulocytic anomaly: first report of 2 homozygous subjects in the same family]. Arch. Sci. Med. (Torino), 138, 511-515.
20. Siegert, E., Beier, L. and Grabner, H. (1983) [Homozygotic Pelger Huët anomaly]. Kinderarztl. Prax., 51, 164-169.
21. Stobbe, H. and Jorke, D. (1965) [Findings in homozygous carriers of Pelger's anomaly]. Schweiz. Med. Wochenschr, 95, 1524-1529.
22. Schuler, E., Lin, F. and Worman, H.J. (1994) Characterization of the human gene encoding LBR, an integral protein of the nuclear envelope inner membrane. J. Biol. Chem., 269, 11312-11317.
23. Ye, Q., Callebaut, I., Pezhman, A., Courvalin, J.C. and Worman, H.J. (1997) Domain-specific interactions of human HP1-type chromodomain proteins and inner nuclear membrane protein LBR. J. Biol. Chem., 272, 14983-14989.
24. Skendzel, L.P. and Hoffman, G.C. (1962) The Pelger anomaly of leukocytes: forty-one cases in seven families. Am. J. Clin. Pathol., 37, 294-301.
25. Nachtsheim, H. (1943) Die Pelger-Anomalie und ihre verebung bei Mensch und Tier. Die. Erbarzt, 11, 129-142.
26. Nachtsheim, H. (1950) The Pelger-Anomaly in man and rabbit. J. Hered., XLI, 131-137.
27. Undritz, E. (1943) Das ausschliessliche Vorkommen reifer rundkerniger Leukozyten bei der reingezuechteten Pelger-Huëtschen Anomalie des Kaninchens und die Bedeutung der Pelger-Leukozyten in der vergleichenden Haematologie. Folia Haemat., 67, 249-291.
28. Bowles, C.A., Alsaker, R.D. and Wolfle, T.L. (1979) Studies of the Pelger-Huët anomaly in foxhounds. Am. J. Pathol., 96, 237-247.
29. Kiss, M. and Komar, G. Jr (1967) [Pelger-Huët nuclear anomaly in leukocytes in a dog]. Berl. Munch. Tierarztl. Wochenschr., 80, 474-476.
30. Latimer, K.S. and Prasse, K.W. (1982) Neutrophilic movement of a Basenji with Pelger-Huët anomaly. Am. J. Vet. Res., 43, 525-527.
31. Latimer, K.S., Duncan, J.R. and Kircher, I.M. (1987) Nuclear segmentation, ultrastructure, and cytochemistry of blood cells from dogs with Pelger-Huët anomaly. J. Comp. Pathol., 97, 61-72.
32. Latimer, K.S., Rakich, P.M. and Thompson, D.F. (1985) Pelger-Huët anomaly in cats. Vet. Pathol., 22, 370-374.
33. Olins, A.L., Herrmann, H., Lichter, P., Kratzmeier, M., Doenecke, D. and Olins, D.E. (2001) Nuclear envelope and chromatin compositional differences comparing undifferentiated and retinoic acid- and phorbol ester-treated HL-60 cells. Exp. Cell. Res., 268, 115-127.
34. Burke, B. and Stewart, C.L. (2002) Life at the edge: the nuclear envelope and human disease. Nat. Rev. Mol. Cell Biol., 3, 575-585.
35. Novelli, G., Muchir, A., Sangiuolo, F., Helbling-Leclerc, A., D'Apice, M.R., Massart, C., Capon, F., Sbraccia, P., Federici, M., Lauro, R. et al. (2002) Mandibuloacral Dysplasia Is Caused by a Mutation in LMNA-Encoding Lamin A/C. Am. J. Hum. Genet., 71, 426-431.
36. Bonne, G., Di Barletta, M.R., Varnous, S., Becane, H.M., Hammouda, E.H., Merlini, L., Muntoni, F., Greenberg, C.R., Gary, F., Urtizberea, J.A. et al. (1999) Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat. Genet., 21, 285-288.
37. De Sandre-Giovannoli, A., Chaouch, M., Kozlov, S., Vallat, J.M., Tazir, M., Kassouri, N., Szepetowski, P, Hammadouche, T., Vandenberghe, A., Stewart, C.L., Grid, D. and Levy, N. (2002) Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. Am. J. Hum. Genet., 70, 726-736.
38. Shackleton, S., Lloyd, D.J., Jackson, S.N., Evans, R., Niermeijer, M.F., Singh, B.M., Schmidt, H., Brabant, G., Kumar, S., Durrington, P.N. et al. (2000) LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nat. Genet., 24, 153-156.
39. Hutchison, C.J., Alvarez-Reyes, M. and Vaughan, O.A. (2001) Lamins in disease: why do ubiquitously expressed nuclear envelope proteins give rise to tissue-specific disease phenotypes? J. Cell. Sci., 114, 9-19.
40. Stenoien, D.L., Simeoni, S., Sharp, Z.D. and Mancini, M.A. (2000) Subnuclear dynamics and transcription factor function. J. Cellular Biochem., 35(suppl.), 99-106.
41. Prakash, A., Sengupta, S., Aparna, K. and Kasbekar, D.P. (1999) The erg-3 (sterol delta14, 15-reductase) gene of Neurospora crassa: generation of null mutants by repeat-induced point mutation and complementation by proteins chimeric for human lamin B receptor sequences. Microbiology, 145, 1443-1451.
42. Silve, S., Dupuy, P.H., Ferrara, P. and Loison, G. (1998) Human lamin B receptor exhibits sterol C 14-reductase activity in Saccharomyces cerevisiae. Biochim. Biophys. Acta, 1392, 233-244.
43. Holmer, L., Pezhman, A. and Worman, H.J. (1998) The human lamin B receptor/sterol reductase multigene family. Genomics, 54, 469-476.
44. Schrick, K., Mayer, U., Horrichs, A., Kuhnt, C., Bellini, C., Dangl, J., Schmidt, J. and Jurgens, G. (2000) FACKEL is a sterol C-14 reductase required for organized cell division and expansion in Arabidopsis embryogenesis. Genes Devl., 14, 1471-1484.
45. Ballabio, A., Parenti, G., Carrozzo, R., Sebastio, G., Andria, G., Buckle, V., Fraser, N., Craig, I., Rocchi, M., Romeo, G. et al. (1987) Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis. Proc. Natl Acad. Sci. USA, 84, 4519-4523.
46. Kelley, R.I. and Herman, G.E. (2001) Inborn errors of sterol biosynthesis. Annu. Rev. Genomics Hum. Genet., 2, 299-341.
47. Wilson, K.L. (2000) The nuclear envelope, muscular dystrophy and gene expression. Trends Cell. Biol., 10, 125-129.
48. Fitzky, B.U., Witsch-Baumgartner, M., Erdel, M., Lee, J.N., Paik, Y.K., Glossmann, H., Utermann, G. and Moebius, F.F. (1998) Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. Proc. Natl Acad. Sci. USA, 95, 8181-8186.
49. Waterham, H.R., Wijburg, F.A., Hennekam, R.C., Vreken, P., Poll-The, B.T., Dorland, L., Duran, M., Jira, P.E., Smeitink, J.A., Wevers, R.A. and Wanders, R.J. (1998) Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. Am. J Hum. Genet., 63, 329-338.
50. Green, M.C. and Sweet, H.O. (1974) Position of ic in chromosome 1. Mouse News Lett., 51, 24.
51. Sweet, H.O. and Davisson, M.T. (1995) Remutations at The Jackson Laboratory. Mouse Genome, 91, 862-865.
52. Truett, G.E., Heeger, P., Mynatt, R.L., Truett, A.A., Walker, J.A. and Warman, M.L. (2000) Preparation of PCR-quality mouse genomic DNA with hot sodium hydroxide and tris (HotSHOT). Biotechniques, 29, 52-54.
53. Kawahire, S., Takeuchi, M., Gohshi, T., Sasagawa, S., Shimada, M., Takahashi, M., Abe, T.K., Ueda, T., Kuwano, R., Hikawa, A. et al. (1997) cDNA cloning of nuclear localization signal binding protein NBP60, a rat homologue of lamin B receptor, and identification of binding sites of human lamin B receptor for nuclear localization signals and chromatin. J. Biochem. (Tokyo), 121, 881-889.