Mapping of the associated phenotype of an absent granular layer in ichthyosis vulgaris to the epidermal differentiation complex on chromosome 1

Experimental Dermatology

Volumn 11, Issue 6, 2002, Pages 518-526

  Compton, John G ^a   DiGiovanna, John J ^b   Johnston, Kay A ^c   Fleckman, Philip ^d   Bale, Sherri J ^a  

^a NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES   (United States)

^b BROWN UNIVERSITY   (United States)

^c WILFORD HALL MEDICAL CENTER   (United States)

^d UNIVERSITY OF WASHINGTON   (United States)

Author keywords

Epidermal differentiation complex; Ichthyosis vulgaris; Linkage analysis

Indexed keywords

FILAGGRIN; KERATOHYALIN; PROFILAGGRIN;

ADULT; AMINO TERMINAL SEQUENCE; ARTICLE; CARBOXY TERMINAL SEQUENCE; CHROMOSOME 1; CLINICAL FEATURE; DOMINANT INHERITANCE; EPIDERMIS; FAMILY; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEGREGATION; GENETIC CODE; GENETIC DISORDER; GENETIC LINKAGE; GENETIC REGULATION; GENOTYPE; HISTOLOGY; HUMAN; HYPERKERATOSIS; ICHTHYOSIS VULGARIS; MOLECULAR MODEL; PHENOTYPE; RECESSIVE INHERITANCE; SEQUENCE ANALYSIS; SIBLING; TISSUE DIFFERENTIATION;

ADULT; AMINO ACID SEQUENCE; CELL DIFFERENTIATION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; EPIDERMIS; FEMALE; HUMANS; ICHTHYOSIS VULGARIS; INTERMEDIATE FILAMENT PROTEINS; LINKAGE (GENETICS); MALE; PEDIGREE; PHENOTYPE; PROTEIN PRECURSORS;

EID: 0041888517     PISSN: 09066705     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1600-0625.2002.110604.x     Document Type: Article

References (22)

1. Wells R S, Kerr C B. Clinical features of autosomal dominant and sex-linked ichthyosis in an English population. Br Med J 1966a: 1: 947-950.
2. Leboyer M, Bellivier F, Nosten-Bertrand M, Jouvent R, Pauls D, Mallet J. Psychiatric genetics: Search for phenotypes. Trends Neurosci 1998: 21: 102-105.
3. Wells R S, Kerr C B. The histology of ichthyosis. J Invest Dermatol 1966b: 46: 530-535.
4. Kuokkanen K. Ichthyosis vulgaris. Acta Dermato-Venerol 1969: 49 (Suppl. 62): 1-72.
5. Yoshiike T, Matsui T, Ogawa H. Steroid sulphatase deficiency in patients initially diagnosed as ichthyosis vulgaris or recessive X-linked ichthyosis. Br J Dermatol 1985: 112: 431-433.
6. Mevorah B, Krayenbuhl A, Bovey E H, Van Melle G D. Autosomal dominant ichthyosis and X-linked ichthyosis. Acta Derm Venereol Stockh 1991: 71: 431-434.
7. Anton-Lamprecht I, Hofbauer M. Ultrastructural distinction of autosomal dominant ichthyosis vulgaris and X-linked recessive ichthyosis. Humangenetik 1972: 15: 261-264.
8. Sybert V P, Dale B A, Holbrook K A. Ichthyosis vulgaris: Identification of a defect in synthesis of filaggrin correlated with an absence of keratohyaline granules. J Invest Dermatol 1985; 84: 191-194.
9. Fleckman P, Brumbaugh S. Absence of the granular layer and keratohyalin define a morphologically distinct subset of individuals with ichthyosis vulgaris. Exp Derm 2002: 11: 327-336.
10. Manabe M, Sanchez M, Sun T T, Dale B A. Interaction of filaggrin with keratin filaments during advanced stages of epidermal differentiation and in ichthyosis vulgaris. Differentiation 1991: 48: 43-50.
11. Dale B A, Resing KA, Presland R B. Keratohyalin granule protein. In: Leigh I M, Lane E B, Watt F M, eds. The Keratinocyte Handbook. Cambridge: Cambridge University Press 1994: 323-350.
12. Gan S Q, McBride W, Idler W W, Markova N, Steinert P M. Organization, structure, and polymorphisms of the human profilaggrin gene. Biochemistry 1990: 29: 9432-9440 [published erratum appears in Biochemistry 1991: 30: 5814].
13. Scott I R, Harding C R, Barrett J G. Histidine-rich protein of the keratohyalin granules. Source of the free amino acids, urocanic acid and pyrrolidone carboxylic acid in the stratum corneum. Biochim Biophys Acta 1982: 719: 110-117.
14. Nirunsuksiri W, Presland R B, Lewis S P, Brumbaugh S G, Dale B A, Fleckman P. Decreased profilaggrin expression in ichthyosis vulgaris is a result of selectively impaired post-transcriptional control. J Biol Chem 1995: 270: 871-876.
15. Fleckman P, Holbrook K A, Dale B A, Sybert V P. Keratinocytes cultured from subjects with ichthyosis vulgaris are phenotypically abnormal. J Invest Dermatol 1987: 88: 640-645.
16. Nirunsuksiri W, Zhang S H, Fleckman P. Reduced stability and bi-allelic, coequal expression of profilaggrin mRNA in keratinocytes cultured from subjects with ichthyosis vulgaris. J Invest Dermatol 1998: 110: 854-861.
17. Marenholz I, Volz A, Ziegler A, et al. Genetic analysis of the epidermal differentiation complex (EDC) on human chromosome 1q21: Chromosomal orientation, new markers, and a 6-Mb YAC contig. Genomics 1996: 37: 295-302.
18. Richards B. Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs. Hum Mol Genet 1993: 2: 159-163.
19. Lathrop G M, Lalouel J M, Julier C, Ott J. Multilocus linkage analysis in humans: Detection of linkage and estimation of recombination. Am J Hum Genet 1985: 37: 482-498.
20. Wells R S, Kerr C B. Clinical features of autosomal dominant and sex-linked ichthyosis in an English population. Br Med J 1966: 1: 947-950.
21. Lever W F, Schaumburg-Lever G. Histology of the skin. In: Histopathology of the Skin. Philadelphia: J.B. Lippincott Co. 1990: 12.
22. Greenberg D A, Abreu P, Hodge S E. The power to detect linkage in complex disease by means of simple LOD-score analyses. Am J Hum Genet 1998: 63: 870-879.