Mutations in the helix termination motif of mouse type I IRS keratin genes impair the assembly of keratin intermediate filament

Genomics

Volumn 90, Issue 6, 2007, Pages 703-711

  Tanaka, Shigekazu ^a   Miura, Ikuo ^b   Yoshiki, Atsushi ^c   Kato, Yoriko ^a   Yokoyama, Haruka ^b   Shinogi, Akiko ^b   Masuya, Hiroshi ^b   Wakana, Shigeharu ^b   Tamura, Masaru ^a   Shiroishi, Toshihiko ^a,b  

^a NATIONAL INSTITUTE OF GENETICS   (Japan)

^b RIKEN YOKOHAMA INSTITUTE   (Japan)

^c RIKEN BIORESOURCE CENTER   (Japan)

Author keywords

Deletion; ENU mutagenesis; Helix termination motif; Inner root sheath; Krt25; Krt27; Proline; Rex; Type I keratin; Wavy coat

Indexed keywords

DNA; KERATIN;

ALPHA HELIX; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; DNA HELIX; FOAM CELL; GENE MUTATION; IMMUNOHISTOCHEMISTRY; IMMUNOREACTIVITY; INTERMEDIATE FILAMENT; MOUSE; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; PHYLOGENETIC TREE; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN MOTIF; SPONTANEOUS MUTATION; VIBRISSA;

AMINO ACID MOTIFS; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; DNA; HAIR; HAIR FOLLICLE; IMMUNOHISTOCHEMISTRY; INTERMEDIATE FILAMENTS; KERATINS, HAIR-SPECIFIC; LINKAGE (GENETICS); MICE; MICE, MUTANT STRAINS; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; PHYLOGENY; SEQUENCE DELETION; SEQUENCE HOMOLOGY, AMINO ACID;

MUS;

EID: 36448990412     PISSN: 08887543     EISSN: 10898646     Source Type: Journal    
DOI: 10.1016/j.ygeno.2007.07.013     Document Type: Article

References (42)

1. Hatzfeld M., and Franke W.W. Pair formation and promiscuity of cytokeratins: formation in vitro of heterotypic complex and intermediate-sized filaments by homologous and heterologous recombinations of purified polypeptides. J. Cell Biol. 101 (1985) 1826-1841
2. Rogers M.A., Winter H., Langbein L., Bleiler R., and Schweizer J. The human type I keratin gene family: characterization of new hair follicle specific members and evaluation of the chromosome 17q21.2 gene domain. Differentiation 72 (2004) 527-540
3. Rogers M.A., et al. Characterization of new members of the human type II keratin gene family and a general evaluation of the keratin gene domain on chromosome 12q13.13. J. Invest. Dermatol. 124 (2005) 536-544
4. Rogers M.A., Langbein L., Praetzel-Wunder S., Winter H., and Schweizer J. Human hair keratin-associated proteins (KAPs). Int. Rev. Cytol. 251 (2006) 209-263
5. Nakamura M., Sundberg J.P., and Paus R. Mutant laboratory mice with abnormalities in hair follicle morphogenesis, cycling, and/or structure: annotated tables. Exp. Dermatol. 10 (2001) 369-390
6. Dunn L.C. Caracul, a dominant mutation. J. Hered. 28 (1937) 334
7. Kikkawa Y., et al. A small deletion hotspot in the type II keratin gene mK6irs1/Krt2-6g on mouse chromosome 15, a candidate for causing the wavy hair of the Caracul (Ca) mutation. Genetics 165 (2003) 721-733
8. Peters T. Alopecia in a novel mouse model RCO3 is caused by mK6irs1 deficiency. J. Invest. Dermatol. 121 (2003) 674-680
9. rco13. Mamm. Genome 17 (2006) 1172-1182
10. Aoki N., et al. A novel type II cytokeratin, mK6irs, is expressed in the Huxley and Henle layers of the mouse inner root sheath. J. Invest. Dermatol. 116 (2001) 359-365
11. Porter R.M., et al. Keratin K6irs is specific to the inner root sheath of hair follicles in mice and humans. Br. J. Dermatol. 145 (2001) 558-568
12. Langbein L., et al. A novel epithelial keratin, hK6irs1, is expressed differentially in all layers of the inner root sheath, including specialized Huxley cells (Flügelzellen) of human hair follicle. J. Invest. Dermatol. 118 (2002) 789-799
13. Crew F.A.E., and Auerbach C. Rex: a dominant autosomal monogenic coat texture character in the mouse. J. Genet. 38 (1939) 341-344
14. Michie D. A new linkage in the house mouse: Vestigial and Rex. Nature 170 (1952) 585
15. Nadeau J.H., et al. A family of type I keratin genes and the homeobox-2 gene complex are closely linked to the rex locus on mouse chromosome 11. Genomics 5 (1989) 454-462
16. Carter T.C. Wavy-coated mice: phenotypic interactions and linkage tests between rex and (a) waved-1, (b) waved-2. J. Genet. 50 (1951) 268-276
17. Trigg M.J. Hair growth in mouse mutants affecting coat texture. J. Zool. 168 (1972) 165-198
18. Sundberg J.P. Handbook of Mouse Mutations with Skin and Hair Abnormalities: Animal Models and Biomedical Tools (1994), CRC Press, Boca Raton, FL
19. Bawden C.S., McLaughlan C., Nesci A., and Rogers G. A unique type I keratin intermediate filament gene family is abundantly expressed in the inner root sheaths of sheep and human hair follicles. J. Invest. Dermatol. 116 (2001) 157-166
20. Hesse M., Magin T.M., and Weber K. Genes for intermediate filament proteins and draft sequence of human genome: novel keratin genes and a surprisingly high number of pseudogenes related to keratin gene 8 and 18. J. Cell Sci. 114 (2001) 2569-2575
21. Hesse M., Zimek A., Weber K., and Magin T.M. Comprehensive analysis of keratin gene clusters in human and rodents. Eur. J. Cell Biol. 83 (2004) 19-26
22. Langbein L., Rogers M.A., Praetzel S., Winter H., and Schweizer J. K6irs1, K6irs2, K6irs3, and K6irs4 represent the inner-root-sheath-specific type II epithelial keratins of the human hair follicle. J. Invest. Dermatol. 120 (2003) 512-522
23. Schweizer J., et al. New consensus nomenclature for mammalian keratins. J. Cell Biol. 174 (2006) 169-174
24. Langbein L., et al. K25 (k25irs1), K26 (K25irs2), K27 (K25irs3), K28 (K25irs4) represent the type I inner root sheath keratins of human hair follicle. J. Invest. Dermatol. 126 (2006) 2377-2386
25. Sato H., et al. The genomic organization of type I keratin genes in mice. Genomics 56 (1999) 303-309
26. Porter R.M., et al. Functional analysis of keratin components in the mouse hair follicle inner root sheath. Br. J. Dermatol. 150 (2004) 195-204
27. wc. Mouse News Lett. 39 (1968) 25
28. Eicher E.M., and Varnum D. Allelism of Den and Re. Mouse News Lett. 75 (1986) 29-30
29. Tamura M., et al. Members of a novel family, Gsdm, are expressed exclusively in the epithelium of the skin and gastrointestinal tract in a highly tissue-specific manner. Genomics 89 (2007) 618-629
30. Runkel F., et al. The dominant alopecia phenotypes Bareskin, Rex-denuded, and Reduced Coat 2 are caused by mutations in gasdermin 3. Genomics 84 (2004) 824-835
31. Lyon M.F., and Zenthon J.F. Relationship between bareskin, denuded and rex. Mouse News Lett. 77 (1987) 125
32. Wu K.C., et al. Coiled-coil trigger motifs in the 1B and 2B rod domain segments are required for the stability of keratin intermediate filaments. Mol. Biol. Cell 11 (2000) 3539-3558
33. O'Neil K.T., and DeGrado W.F. A thermodynamic scale for the helix-forming tendencies of the commonly occurring amino acids. Science 250 (1990) 646-651
34. Blaber M., Zhang X.J., and Matthews B.W. Structural basis of amino acid alpha helix propensity. Science 260 (1993) 1637-1640
35. Letai A., Coulombe P.A., and Fuchs E. Do the ends justify the mean? Proline mutations at the ends of the keratin coiled-coil rod segment are more disruptive than internal mutations. J. Cell Biol. 116 (1992) 1181-1195
36. Wawersik M., Paladini R.D., Noensie E., and Coulombe P.A. A proline residue in the alpha-helical rod domain of type I keratin 16 destabilizes keratin heterodimers. J. Biol. Chem. 272 (1997) 32557-32565
37. Reichelt J., Furstenberger G., and Magin T.M. Loss of keratin 10 leads to mitogen-activated protein kinase (MAPK) activation, increased keratinocyte turnover, and decreased tumor formation in mice. J. Invest. Dermatol. 123 (2004) 973-981
38. Reichelt J., Breiden B., Sandholf K., and Magin T.M. Loss of keratin 10 is accompanied by increased sebocyte proliferation and differentiation. Eur. J. Cell Biol. 83 (2004) 747-759
39. Masuya H., et al. Implementation of the modified-SHIRPA protocol for screening of dominant phenotypes in a large-scale ENU mutagenesis program. Mamm. Genome. 16 (2005) 829-837
40. Moriwaki K., Shiroishi T., and Yonekawa H. Genetics in Wild Mice (1994), Japan Sci. Soc. Press/Karger, Tokyo/Basel
41. Koide K., Moriwaki K., Ikeda H., Niki H., and Shiroishi T. Multiple-phenotype behavioral characterization of inbred strains derived from wild stocks of Mus musculus. Mamm. Genome 11 (2000) 664-670
42. Saitou N., and Nei M. The neighbor-joining method: a new method for reconstructing phylogenetic trees. Mol. Biol. Evol. 4 (1987) 406-425