Evidence for genetic heterogeneity in monilethrix

Journal of Investigative Dermatology

Volumn 107, Issue 6, 1996, Pages 812-814

  Richard, Gabriela ^a,c   Itin, Peter ^b   Lin, Jing Ping ^a   Bon, Anita ^b   Bale, Sherri J ^a  

^a NIAMS   (United States)

^b UNIVERSITY OF BASEL   (Switzerland)

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

Author keywords

Alopecia; Hair; Keratin intermediate filament associated protein; Keratin intermediate filaments; Transglutaminase; Trichohyalin

Indexed keywords

PROTEIN; PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE;

ALOPECIA; ARTICLE; CLINICAL ARTICLE; CONGENITAL SKIN DISEASE; GENETIC HETEROGENEITY; GENETIC LINKAGE; HAIR DISEASE; HUMAN; PRIORITY JOURNAL;

EID: 0029988216     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1111/1523-1747.ep12330568     Document Type: Article

References (32)

1. Albertsen HM, Smith SA, Mazoyer S, Fujimoto E, Stevens J, Williams B, Rodriguez P, Cropp CS, Slijepcevic P, Carlson M, Robertson M, Bradley P, Lawrence E, Harrington T, Mei Sheng Z, Hoopes R, Sternberg N, Brothman A, Callahan R, Ponder BAJ, White R: A physical map and candidate genes in the BRCA1 region on chromosome 17q12-21. Nat Genet 7:472-479, 1994
2. Bartsova L, Jorda V: Monilethrix. Cesk Dermatol 48:232-237, 1973
3. Bowden PE, Haley JL, Parker G, Hodgkins MB: Sequence and expression of human hair keratin genes. J Dermatol Sci 7:S152-S163, 1994
4. Cockayne EA: Inherited Abnormalities of the Skin and Its Appendages. Oxford University Press, 1933, pp. 144-146
5. De Berker DAR, Ferguson DJP, Dawber RPR: Monilethrix, a clinicopathological illustration of a cortical defect. Br J Dermatol 128:327-331, 1993
6. Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, Marc S, Hazan J, Seboun E, Lathrop M, Gyapay G, Morissette J, Weissenbach J: A comprehensive genetic map of human genome based on 5,264 microsatellites. Nature 380:152-154, 1996
7. Greenberg CS, Birckbichler PJ, Rice RH: Transglutaminases: multifunctional crosslinking enzymes that stabilize tissues. FASEB J 5:3071-3077, 1991
8. Gummer CL, Dawber RPR, Swift JA: Monilethrix P: an electron microscopic and electron histochemical study. Br J Dermatol 105:529-541, 1981
9. Hanhart E: Erstmaliger Hinweis auf das Vorkommen eines Monohybrid-rezessiven Erbgangs bei Monilethrix. Arch Julius Klaus Stift Vererbungsforsch 30:1-7, 1955
10. Healy E, Holmes SC, Belgaid CE, Stephenson AM, McLean WHI, Rees JL, Munro CS: A gene for monilethrix is closely linked to the keratin gene cluster at 12q13. Hum Mol Genet 4:2399-2402, 1995
11. Heydt GE: Zur Kenntnis des Monilethrix-Syndroms. Arch Klin Exp Dermatol 217:15-29, 1964
12. Ito M, Hashimoto K, Yorder M: Monilethrix: an ultrastructural study. J Cutan Pathol 11:513-521, 1984
13. Lane EB: Keratin diseases. Curr Opin Genet Dev 4:412-418, 1994
14. MacKinnon PJ, Powell BC, Rogers GF, Baker EG, MacKinnon RN, Hyland VJ, Callen DF, Sutherland DF: An ultrahigh-sulphur keratin gene of the human hair cuticle is located at 11q13 and cross-hybridises with sequences at 11p15. Mamm Genome 1:53-56, 1991
15. Mischke D, Korge BP, Marenholz I, Volz A, Ziegler A: Genes encoding structural proteins of epidermal cornification and S100 calcium-binding proteins form a gene complex ("epidermal differentiation complex") on human chromosome 1q21. J Invest Dermatol 106:989-992, 1996
16. Morton NE, Collins A, Lawrence S, Shields DC: Algorithms for a location database. Ann Hum Genet 56:223-232, 1992
17. Ploughman LM, Boehnke M: Estimating the power of a proposed linkage study for a complex genetic trait. Am J Hum Genet 44:543-551, 1989
18. O'Connell JR, Weeks DE: The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recording and fuzzi inheritance. Nat Genet 11:402-408, 1995
19. Powell BC, Rogers GE: Differentiation in hard keratin tissues: hair and related structures. In: Leigh IM, Lane EB, Watt KM (eds.) The Keratinocyte Handbook. Cambridge University Press, New York, 1994, pp 401-436
20. Powell BC, Nesci A, Rogers GE: Regulation of keratin gene expression in hair follicle differentiation. Ann NY Acad Sci 642:1-20, 1991
21. Richard G, Korge BP, Wright AR, Mazzanti C, Harth W, Annicchiarico-Petruzzelli M, Compton JG, Bale SJ: Hailey-Hailey disease maps to a 5cM interval on chromosome 3q21-24. J Invest Dermatol 105:357-360, 1995
22. Richards B, Skoletsky J, Shuber AP, Balfour R, Stern R, Dorkin HL, Parad RB, Witt D, Klinger KW: Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs. Hum Mol Genet 2:159-163, 1993
23. Russell LJ, DiGiovanna JJ, Hashem N, Compton JG, Bale SJ: Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q. Am J Hum Genet 55:1146-1152, 1994
24. Salamon T, Schnyder UW: Ueber die Monilethrix. Arch Klin Exp Dermatol 215:105-136, 1962
25. Sfaello Z, Hariga J: Monilethrix associé à la debilité mentale: étude d'une famille. Arch Belg Dermatol Syphiligr 23:363-371, 1967
26. Smith CM, Bora PS, Bora NS, Jones C, Gerhard DS: Genetic and radiation-reduced somatic cell hybrid sublocalization of the human GSTP1 gene. Cytogenet Cell Genet 71:235-239, 1995
27. Solomon IL, Green OC: Monilethrix. N Engl J Med 269:1279-1282, 1963
28. Stevens HP, Kelsell DP, Bryant SP, Bishop DT, Dawber RPR, Spurr NK, Leigh IM: Linkage of monilethrix to the trichocyte and epithelial keratin gene cluster on 12q11-q13. J Invest Dermatol 106:795-797, 1996
29. Tamada Y, Takama H, Kitamura T, Ikeya T, Yokochi T: Expression of transglutaminase 1 in human anagen hair follicles. Acta Derm Venereol (Stockh) 75:190-192, 1995
30. Wang M, Kim I-G, Steinert PM, McBride OW: Assignment of the human transglutaminase 2 (TGM2) and transglutaminase 3 (TGM3) genes to chromosome 20q11.2. Genomics 23:721-722, 1994
31. Yoon S-J, Leblanc-Straceski J, Ward D, Krauter K, Kucherlapati R: Organization of the human keratin type II gene cluster at 12q13. Genomics 24:502-508, 1994
32. Zimmermann R: Monilethrix. Dermatol Monatsschr 169:638-645, 1983