Linkage of monilethrix to the trichocyte and epithelial keratin gene cluster on 12q11-q13

Journal of Investigative Dermatology

Volumn 106, Issue 4, 1996, Pages 795-797

  Stevens, Howard P ^a,e   Kelsell, David P ^b   Bryant, Steven P ^b   Bishop, D Timothy ^c   Dawber, Rodney P R ^d   Spurr, Nigel K ^b   Leigh, Irene M ^a  

^a ROYAL LONDON HOSPITAL   (United Kingdom)

^b IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

^c ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^d CHURCHILL HOSPITAL   (United Kingdom)

^e Dept of Experimental Dermatology ^*  (United Kingdom)

Author keywords

Epidermolysis; Follicular hyperkeratosis; Hair disease; Hard keratins

Indexed keywords

KERATIN;

ARTICLE; CHROMOSOME 12P; CHROMOSOME 12Q; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; HAIR DISEASE; HUMAN; HYPERKERATOSIS; MALE; MUTATION; PRIORITY JOURNAL;

EID: 0030010193     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1111/1523-1747.ep12346400     Document Type: Article

References (25)

1. Bowden PE, Haley JL, Kansky A, Rothnagel JA, Jones DO, Turner RJ: Mutation of a type II keratin gene (K6a) in pachyonychia congenita. Nature Genet 10:363-365, 1995
2. Cottingham RW, Idury RM, Schaffer AA: Faster sequential genetic linkage computations. Am J Hum Genet 53:252-263, 1993
3. Coulombe PA, Hutton ME, Letai A, Hebert A, Paller A, Fuchs E: Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses. Cell 66:1301-1311, 1991
4. de Berker DAR, Ferguson DJP, Dawber RPR: Monilethrix: a clinicopathological illustration of a cortical defect. Br J Dermatol 128:327-331, 1993
5. Dong W, Ryynänen M, Uitto J: Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Koebner type of epidermolysis bullosa simplex. Hum Mutat 2:94-102, 1993
6. Fuchs E, Coppock SM, Green H, Cleveland DW: Two distinct classes of keratin genes and their evolutionary significance. Cell 27:75-84, 1981
7. Gummer CL, Dawber PRP, Swift JA: Monilethrix: an electron microscopic and electron histochemical study. Br J Dermatol 105:529-541, 1981
8. Heid HW, Moll I, Franke WW: Patterns of expression of trichocyte and epithelial cytokeratins in mammalian tissues. I. Human and bovine hair follicles. Differentiation 37:137-157, 1988a
9. Heid HW, Moll I, Franke WW: Patterns of trichocytic and epithelial cytokeratins in mammalian tissues. II. Concomitant and mutually exclusive synthesis of trichocyte and epithelial cytokeratins in diverse human and bovine tissues (hair follicle, nail bed and matrix, lingual papilla, thymic reticulum). Differentiation 37:215-230, 1988b
10. Heid HW, Werner E, Franke WW: The complement of native alpha-keratin polypeptides of hair forming cells: a subset of eight polypeptides that differ from epithelial cytokeratins. Differentiation 32:101-119, 1986
11. Ishida-Yamamoto A, McGrath JA, Chapman SJ, Leigh IM, Lane EB, Eady RAJ: Epidermolysis bullosa simplex (Dowling-Meara type) is a genetic disease characterized by an abnormal keratin-filament network involving keratins K5 and K14. J Invest Dermatol 97:959-968, 1991
12. Ito M, Hashimoto K, Katsuumi K, Sato Y: Pathogenesis of monilethrix: computer stereography and electron microscopy. J Invest Dermatol 95:186-194, 1990
13. Ito M, Hashimoto K, Yorder FW: Monilethrix: an ultrastructural study. J Cutan Pathol 11:513-521, 1984
14. Kelsell DP, Black DM, Bishop DT, Spurr NK: Generic analysis of the BRCA1 region in a large breast/ovarian family: refinement of the minimal region containing BRCA1. Hum Mol Genet 11:1823-1828, 1993
15. Kelsell DP, Stevens HP, Ratnavel R, Bryant SP, Bishop DT, Leigh IM, Spurr NK: Generic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity. Hum Mol Genet 4:1021-1025, 1995
16. McLean WHI, Eady RAJ, Dopping-Hepenstal PJC, McMillan JR, Leigh IM, Navsaria HA, Higgins C, Harper JI, Paige DG, Morley SM, Lane EB: Mutations in the rod domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE). J Invest Dermatol 102:24-30, 1994a
17. McLean WHI, Morley SM, Lane EB, Eady RAJ, Griffiths A, Paige DG, Harper JI, Higgins C, Leigh IM: Ichthyosis bullosa of Siemens - a disease involving keratin 2e. J Invest Dermatol 102:277-281, 1994b
18. McLean WHI, Rugg EL, Lunny DP, Morley SM, Lane EB, Swensson O, Dopping-Hepenstal PJC, Griffiths WAD, Eady RAJ, Higgins C, Navsaria HA, Leigh IM, Strachan T, Kunkeler L, Munro CS: Keratin 16 and keratin 17 mutations cause pachyonychia congenita. Nature Genet 9:273-278, 1995
19. Moll R, Franke WW, Schiller DL, Geiger B, Krepler R: The catalog of human cytokeratins: patterns of expression in normal epithelia, tumors, and cultured cells. Cell 31:11-24, 1982
20. Navsaria H, Swensson O, Ratnavel R, Shamsher M, McLean WHI, Lane BE, Griffiths WAD, Eady RAJ, Leigh IM: Ultrastructural changes resulting from keratin 9 gene mutations in two families with epidermolytic palmoplantar keratoderma (EPPK). J Invest Dermatol 104:425-429, 1994
21. Rogers MA, Nischt R, Korge B, Krieg T, Fink TM, Lichter P, Winter H, Schweizer J: Sequence data and chromosomal localization of human type I and type II hair kerarin genes. Exp Cell Res 1220:357-362, 1995
22. Schiller DL, Franke WW, Geiger B: A subfamily of relatively large and basic cytokeratin polypeptides as defined by peptide mapping is represented by one of several polypeptides in epithelial cells. EMBO J 6:761-769, 1982
23. Shamsher M, Navsaria HA, Stevens HP, Ratnavel R, Purkis PE, Kelsell D, McLean WHI, Cook LJ, Griffiths WAD, Leigh IM: Novel mutations in keratin 16 gene underlie focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families. J Invest Dermatol 4:1875-1881, 1995
24. Sun T-T, Eicher R, Schermer A, Cooper D, Nelson WG, Weiss RA: Classification, expression and possible mechanisms of evolution of mammalian epithelial keratins: a unifying model. In: Levine A, Topp W, van de Woude G, Watson JD (eds.). Cancer Cells. The Transforming Phenotype. Cold Spring Harbor Press, Cold Spring Harbor, NY, 1984, pp 169-176
25. Yoon S-J, LeBlanc-Straceski J, Ward D, Krauter K, Kucherlapati R: Organisation of the human keratin type II gene cluster at 12q13. Genomics 24:502-508, 1994