Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2

Human Molecular Genetics

Volumn 12, Issue 18, 2003, Pages 2369-2378

  Lefèvre, Caroline ^a   Audebert, Stéphanie ^a   Jobard, Florence ^a   Bouadjar, Bakar ^b   Lakhdar, Hakima ^c   Boughdene Stambouli, Omar ^d   Blanchet Bardon, Claudine ^e   Heilig, Roland ^f   Foglio, Mario ^a   Weissenbach, Jean ^f   Lathrop, Mark ^a   Prud'homme, Jean François ^g   Fischer, Judith ^a  

^a CENTRE NATIONAL DE GÉNOTYPAGE   (France)

^b CHU Mustapha   (Algeria)

^c IBN ROCHD UNIVERSITY HOSPITAL   (Morocco)

^d Ctr Hosp Universitaire de Tlemcen   (Algeria)

^e SAINT LOUIS HOSPITAL   (France)

^f CENTRE NATIONAL DE SÉQUENÇAGE   (France)

^g NONE

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; ABCA 12 TRANSPORTER; LIPID; MEMBRANE PROTEIN; NUCLEOTIDE BINDING PROTEIN; UNCLASSIFIED DRUG;

ADULT; AFRICA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CHROMOSOME 2Q; CLINICAL ARTICLE; CONSANGUINITY; CONTROLLED STUDY; DISEASE CLASSIFICATION; FAMILY STUDY; FEMALE; GENE IDENTIFICATION; GENE LOCATION; GENE MUTATION; GENE TRANSLOCATION; GENETIC ASSOCIATION; GENETIC CONSERVATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; INTRACELLULAR MEMBRANE; KERATINOCYTE; LAMELLAR BODY; LAMELLAR ICHTHYOSIS; LIPID METABOLISM; LIPID TRANSPORT; LUNG ALVEOLUS CELL TYPE 2; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FAMILY; PROTEIN FUNCTION; SKIN DISEASE;

AFRICAN CONTINENTAL ANCESTRY GROUP; CELLS, CULTURED; CHROMOSOMES, HUMAN, PAIR 2; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; GENE EXPRESSION; GENES, RECESSIVE; GENETIC MARKERS; HAPLOTYPES; HUMANS; ICHTHYOSIS, LAMELLAR; KERATINOCYTES; LINKAGE (GENETICS); LINKAGE DISEQUILIBRIUM; MALE; MEMBRANE TRANSPORT PROTEINS; MICROSATELLITE REPEATS; MODELS, BIOLOGICAL; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; RNA, MESSENGER; SEQUENCE ANALYSIS;

EID: 10744220980     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddg235     Document Type: Article

References (41)

1. Williams, M.L. and Elias, P.M. (1985) Heterogeneity in autosomal recessive ichthyosis. Clinical and biochemical differentiation of lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma. Arch. Dermatol., 121, 477-488.
2. Traupe, H. (1989) The Ichthyoses: a Guide to Clinical Diagnosis, Genetic Counseling, and Therapy. Springer, Heidelberg.
3. Griffiths, W.A.D., Judge, M.R. and Leigh, I.M. (1998) Disorders of keratinization. In Champion, R.H., Burton, J.L., Burns, D.A. and Breathnach, S.M. (eds), Rook/Wilkinson/Ebling: Textbook of Dematology, Blackwell Science, Oxford, pp. 1483-1530.
4. Lavrijsen, A.P., Bouwstra, J.A., Gooris, G.S., Weerheim, A., Bodde, H.E. and Ponec, M. (1995) Reduced skin barrier function parallels abnormal stratum corneum lipid organization in patients with lamellar ichthyosis. J. Invest. Dermatol., 105, 619-624.
5. Melnick, B. (1989) Epidermal lipids and the biochemistry of keratinization. In: Traupe, H. (ed), The Ichthyoses: a Guide to Clinical Diagnosis, Genetic Counseling, and Therapy, Springer, Heidelberg, pp. 14-42.
6. Hazell, M. and Marks, R. (1985) Clinical, histologic, and cell kinetic discriminants between lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma. Arch. Dermatol., 121, 489-493.
7. Russell, L.J., DiGiovanna, J.J., Hashem, N., Compton, J.G. and Bale, S.J. (1994) Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q. Am. J. Hum. Genet., 55, 1146-1152.
8. Parmentier, L., Lakhdar, H., Blanchet-Bardon, C., Marchand, S., Dubertret, L. and Weissenbach, J. (1996) Mapping of a second locus for lamellar ichthyosis to chromosome 2q33-35. Hum. Mol. Genet., 5, 555-559. [Erratum (1996) Hum. Mol. Genet., 5, 862-863.]
9. Fischer, J., Faure, A., Bouadjar, B., Blanchet-Bardon, C., Karaduman, A., Thomas, I., Emre, S., Cure, S., Özgüc, M., Weissenbach, J. et al. (2000) Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity. Am. J. Hum. Genet., 66, 904-913.
10. Krebsova, A., Kuster, W., Lestringant, G.G., Schulze, B., Hinz, B., Frossard, P.M., Reis, A. and Hennies, H.C. (2001) Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity. Am. J. Hum. Genet., 69, 216-222.
11. Huber, M., Rettler, I., Bernasconi, K., Frenk, E., Lavrijsen, S.P., Ponec, M., Bon, A., Lautenschlager, S., Schorderet, D.F. and Hohl, D. (1995) Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science, 267, 525-528.
12. Russell, L.J., DiGiovanna, J.J., Rogers, G.R., Steinert, P.M., Hashem, N., Compton, J.G. and Bale, S.J. (1995) Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. Nat. Genet., 9, 279-283.
13. Jobard, F., Lefèvre, C., Karaduman, A., Blanchet-Bardon, C., Emre, S., Weissenbach, J., Özgüc, M., Lathrop, M., Prud'homme, J.F. and Fischer, J. (2002) Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. Hum. Mol. Genet., 11, 107-113.
14. Bergers, M., Traupe, H., Dunnwald, S.C., Mier, P.D., van Dooren-Greebe, R., Steijlen, P. and Happle, R. (1990) Enzymatic distinction between two subgroups of autosomal recessive lamellar ichthyosis. J. Invest. Dermatol., 94, 407-412.
15. Ghadially, R., Williams, M.L., Hou, S.Y. and Elias, P.M. (1992) Membrane structural abnormalities in the stratum corneum of the autosomal recessive ichthyoses. J. Invest. Dermatol., 99, 755-763.
16. Parmentier, L., Clepet, C., Boughdene-Stambouli, O., Lakhdar, H., Blanchet-Bardon, C., Dubertret, L., Wunderle, E., Pulcini, F., Fizames, C. and Weissenbach, J. (1999) Lamellar ichthyosis: further narrowing, physical and expression mapping of the chromosome 2 candidate locus. Eur. J. Hum. Genet., 1, 77-87.
17. Virolainen, E., Wessman, M., Hovatta, I., Niemi, K.M., Ignatius, J., Kere, J., Peltonen, L. and Palotie, A. (2000) Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2. Am. J. Hum. Genet., 66, 1132-1137.
18. Jobard, F., Bouadjar, B., Caux, F., Hadj-Rabia, S., Has, C., Matsuda, F., Weissenbach, J., Lathrop, M., Prud'homme, J.-F. and Fischer, J. (2003) Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. Hum. Mol. Genet., 12, 925-935.
19. Annilo, T., Shulenin, S., Chen, Z.Q., Arnould, I., Prades, C., Lemoine, C., Maintoux-Larois, C., Devaud, C., Dean, M., Denefle, P. et al. (2002) Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34. Cytogenet. Genome Res., 98, 169-176.
20. Hennies, H.C., Kuster, W., Wiebe, V., Krebsova, A. and Reis, A. (1998) Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis. Am. J. Hum. Genet., 62, 1052-1061.
21. Laiho, E., Niemi, K.M., Ignatius, J., Kere, J., Palotie, A. and Saarialho-Kere, U. (1999) Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis. Eur. J. Hum. Genet., 7, 625-632.
22. Ganemo, A., Pigg, M., Virtanen, M., Kukk, T., Raudsepp, H., Rossman-Ringdahl, I., Westermark, P., Niemi, K.M., Dahl, N. and Vahlquist, A. (2003) Autosomal recessive congenital ichthyosis in Sweden and Estonia: clinical, genetic and ultrastructural findings in eighty-three patients. Acta Dermatol. Venereol., 83, 24-30.
23. Allikmets, R., Gerrard, B, Hutchinson, A. and Dean, M. (1996) Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database. Hum. Mol. Genet., 5, 1649-1655.
24. Dean, M., Rzhetsky, A. and Allikmets, R. (2001) The human ATP-binding cassette (ABC) transporter superfamily. Genome Res., 11, 1156-1166.
25. Borst, P. and Elferink, R.O. (2002) Mammalian ABC transporters in health and disease. A. Rev. Biochem., 71, 537-592.
26. Peelman, F., Labeur, C., Vanloo, B., Roosbeek, S., Devaud, C., Duverger, N., Denefle, P., Rosier, M., Vandekerckhove, J. and Rosseneu, M. (2003) Characterization of the ABCA transporter subfamily: identification of prokaryotic and eukaryotic members, phylogeny and topology. J. Mol. Biol., 325, 259-274.
27. Brooks-Wilson, A., Marcil, M., Clee, S.M., Zhang, L.H., Roomp, K., van Dam, M., Yu, L., Brewer, C., Collins, J.A., Molhuizen, H.O.F. et al. (1999) Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nat. Genet., 22, 336-345.
28. Rust, S., Rosier, M., Funke, H., Real, J., Amoura, Z., Piette, J.C., Deleuze, J.F., Brewer, H.B., Duverger, N., Denefle, P. et al. (1999) Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1. Nat. Genet., 22, 352-355.
29. Oram, J.F. (2002) Molecular basis of cholesterol homeostasis: lessons from Tangier disease and ABCA1. Trends Mol. Med., 8, 168-173.
30. Allikmets, R., Singh, N., Sun, H., Shroyer, N.F., Hutchinson, A., Chidambaram, A., Gerrard, B., Baird, L., Stauffer, D., Peiffer, A. et al. (1997) A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat. Genet., 15, 236-246.
31. Allikmets, R., Shroyer, N.F., Singh, N., Seddon, J.M., Lewis, R.A., Bernstein, P.S., Peiffer, A., Zabriskie, N.A., Li, Y., Hutchinson, A. et al. (1997) Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science, 277, 1805-1807.
32. Allikmets, R. (2000) Simple and complex ABCR: genetic predisposition to retinal disease. Am. J. Hum. Genet., 67, 793-799.
33. Lewis, R.A., Shroyer, N.F., Singh, N., Allikmets, R., Hutchinson, A., Li, Y., Lupski, J.R., Leppert, M. and Dean, M. (1999) Genotype-phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. Am. J. Hum. Genet., 64, 422-434.
34. Huang, W., Moriyama, K., Koga, T., Hua, H., Ageta, M., Kawabata, S., Mawatari, K., Imamura, T., Eto, T., Kawamura, M. et al. (2001) Novel mutations in ABCA1 gene in Japanese patients with Tangier disease and familial high density lipoprotein deficiency with coronary heart disease. Biochim. Biophys. Acta, 1537, 71-78.
35. Yosipovitch, G., Mevorah, B., David, M., Feinmesser, M., Hodak, E., Gabay, B., Ammash, J. and Elias, P.M. (1999) Migratory ichthyosiform dermatosis with type 2 diabetes mellitus and insulin resistance. Arch. Dermatol., 135, 1237-1242.
36. Schmitz, G., Kaminski, W.E. and Orso, E. (2000) ABC transporters in cellular lipid trafficking. Curr. Opin. Lipidol., 11, 493-501.
37. Sprong, H., van der Sluijs, P. and van Meer, G. (2001) How proteins move lipids and lipids move proteins. Nat. Rev. Mol. Cell. Biol., 2, 504-513. [Erratum (2001) Nat. Rev. Mol. Cell. Biol., 2, 698.]
38. Sun, H., Smallwood, P.M. and Nathans, J. (2000) Biochemical defects in ABCR protein variants associated with human retinopathies. Nat. Genet., 26, 242-246.
39. Yamano, G., Funahashi, H., Kawanami, O., Zhao, L.X., Ban, N., Uchida, Y., Morohoshi, T., Ogawa, J., Shioda, S. and Inagaki, N. (2001) ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells. FEBS Lett., 508, 221-225.
40. Lefèvre, C., Jobard, F., Caux, F., Bouadjar, B., Karaduman, A., Heilig, R., Lakhdar, H., Wollenberg, A., Verret, J.L., Weissenbach, J. et al. (2001) Mutations in CGI-58, a new protein of the esterase/lipase/thioesterase family, in Chanarin-Dorfman syndrome. Am. J. Hum. Genet., 69, 1002-1012.
41. Lathrop, G.M. and Lalouel, J.-M. (1984) Easy calculations of lod scores and genetic risks on small computers. Am. J. Hum. Genet., 36, 460-465.