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KRT86  -  keratin 86

Homo sapiens

 
 
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Disease relevance of KRT86

 

High impact information on KRT86

  • In a three-generation French family with monilethrix of a milder and variable phenotype, we detected another heterozygous point mutation in the same glutamic acid codon of hHb6, which resulted in a conservative aspartic acid substitution (Glu 410 Asp) [5].
  • Although cuticular differentiation proceeded without the expression of further type II hair keratins, cortex cells simultaneously expressed hHb1, hHb3, and hHb6 at an advanced stage of differentiation [6].
  • We found that hHb1-DeltaN transcription is initiated at an unusual cryptic promoter within the fourth intron of the hHb1 gene and is dependent on two proximal Sp1 binding sites for its baseline activity [1].
  • The hHa2 gene could be mapped to the long arm of chromosome 17, whereas the hHb1 gene was found on the long arm of chromosome 12 [7].
  • The specific 3'-noncoding sequences of hHa2 and hHb1 were also used to isolate genomic fragments for both keratins from human genomic libraries which were than used for fluorescence in situ hybridization to human metaphase chromosomes [7].
 

Biological context of KRT86

  • We investigated 21 affected individuals in two unrelated monilethrix families of Indian origin and identified point mutation (g.4624G>A) in the HTM motif (exon-7) of the KRTHB6 gene in all the affected members leading to E413K change in this basic keratin [8].
  • Presence of E413K mutation in the HTM of KRTHB6 gene was not observed in the background of the allelic variant with three SNPs in KRTHB1 gene in homozygous condition in all the affected members of Family 1, affected with a localized but severe form of the disease [8].
  • It has been suggested that mutation in hHb1 produces a less severe phenotype [9].
  • Amino acid sequences comparisons of these keratins, including the previously characterized human K2.9 ortholog hHb1, show extreme conservation not only in the alpha-helices but also in the aminoterminal and proximal carboxyterminal domains [10].
  • We have screened the basal promoter region, of KRTHB6 gene involving CAAT and TATA boxes in randomly selected 125 individuals of Indian origin by PCR-SSCP and DNA sequencing [11].
 

Anatomical context of KRT86

  • Thus the underlying G-->A transition represents a spontaneous germ-line mutation in the hHb6 gene [12].
  • Expression pattern of human hair keratin basic 1 (hHb1) in hair follicle and pilomatricoma [3].
  • 2. In comparison with fishes from temperate waters, the blood of this teleost contains a reduced number of erythrocytes and concentration of hemoglobin; the erythrocytes contain two hemoglobins, Hb1 and Hb2, respectively accounting for approximately 90, and 5% of the total [13].
  • The cDNA encoding a human ecto-apyrase (HB6), predicted to have seven N-linked glycosylation sites, was transiently expressed in mammalian COS cells and the resulting membrane preparations were treated with peptide N-glycosidase F (PNGase-F) [14].
  • Here, we report that this CD71+ (HB4/HB6/CDw75/CDw76)+ cell is an erythroid precursor cell instead [15].
 

Associations of KRT86 with chemical compounds

 

Other interactions of KRT86

  • We have cloned two complete type II hair-specific keratin genes (ghHb1 and ghHb6) [20].
  • Monilethrix is an hereditary hair dystrophy recently shown to be due to mutations in the helix termination motif of two type II (basic) human hair keratin genes, hHb1 and hHb6 [9].
 

Analytical, diagnostic and therapeutic context of KRT86

References

  1. Transcription regulation and protein subcellular localization of the truncated basic hair keratin hHb1-DeltaN in human breast cancer cells. Boulay, A., Régnier, C.H., Anglard, P., Stoll, I., Tomasetto, C., Rio, M.C. J. Biol. Chem. (2001) [Pubmed]
  2. Expression of human hair keratin basic 1 in pilomatrixoma. A study of 128 cases. Cribier, B., Asch, P.H., Regnier, C., Rio, M.C., Grosshans, E. Br. J. Dermatol. (1999) [Pubmed]
  3. Expression pattern of human hair keratin basic 1 (hHb1) in hair follicle and pilomatricoma. Régnier, C.H., Asch, P.H., Grosshans, E., Rio, M.C. Exp. Dermatol. (1997) [Pubmed]
  4. Toxicity of the explosive metabolites hexahydro-1,3,5-trinitroso-1,3,5-triazine (TNX) and hexahydro-1-nitroso-3,5-dinitro-1,3,5-triazine (MNX) to the earthworm Eisenia fetida. Zhang, B., Kendall, R.J., Anderson, T.A. Chemosphere (2006) [Pubmed]
  5. Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix. Winter, H., Rogers, M.A., Langbein, L., Stevens, H.P., Leigh, I.M., Labrèze, C., Roul, S., Taieb, A., Krieg, T., Schweizer, J. Nat. Genet. (1997) [Pubmed]
  6. The catalog of human hair keratins. II. Expression of the six type II members in the hair follicle and the combined catalog of human type I and II keratins. Langbein, L., Rogers, M.A., Winter, H., Praetzel, S., Schweizer, J. J. Biol. Chem. (2001) [Pubmed]
  7. Sequence data and chromosomal localization of human type I and type II hair keratin genes. Rogers, M.A., Nischt, R., Korge, B., Krieg, T., Fink, T.M., Lichter, P., Winter, H., Schweizer, J. Exp. Cell Res. (1995) [Pubmed]
  8. A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin. Khandpur, S., Bairwa, N.K., Reddy, B.S., Bamezai, R. Ann. Genet. (2004) [Pubmed]
  9. Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype. Korge, B.P., Hamm, H., Jury, C.S., Traupe, H., Irvine, A.D., Healy, E., Birch-MacHin, M., Rees, J.L., Messenger, A.G., Holmes, S.C., Parry, D.A., Munro, C.S. J. Invest. Dermatol. (1999) [Pubmed]
  10. Sequences and differential expression of three novel human type-II hair keratins. Rogers, M.A., Langbein, L., Praetzel, S., Moll, I., Krieg, T., Winter, H., Schweizer, J. Differentiation (1997) [Pubmed]
  11. A novel promoter polymorphism (-71C>T) in KRTHB6 gene in Indian population. Bairwa, N.K., Malhotra, D., Saha, A., Bamezai, R. Ann. Genet. (2004) [Pubmed]
  12. Monilethrix: a novel mutation (Glu402Lys) in the helix termination motif and the first causative mutation (Asn114Asp) in the helix initiation motif of the type II hair keratin hHb6. Winter, H., Clark, R.D., Tarras-Wahlberg, C., Rogers, M.A., Schweizer, J. J. Invest. Dermatol. (1999) [Pubmed]
  13. Hemoglobin from the antarctic fish Notothenia coriiceps neglecta. Amino acid sequence of the beta chain. D'Avino, R., Caruso, C., Schinina, M.E., Rutigliano, B., Romano, M., Camardella, L., Bossa, F., Barra, D., di Prisco, G. Comp. Biochem. Physiol., B (1990) [Pubmed]
  14. Glycosylation is essential for functional expression of a human brain ecto-apyrase. Smith, T.M., Kirley, T.L. Biochemistry (1999) [Pubmed]
  15. Putative myeloma precursor cells expressing 2,6 sialic acid-modified antigens actually belong to the erythroid lineage. de Lau, W.B., Kuipers, J., Peters, P.J., Lokhorst, H.M., Clevers, H., Bast, B.J. Leuk. Res. (1998) [Pubmed]
  16. Studies on the constituents of Aster scaber Thunb. IV. Structures of four new echinocystic acid glycosides isolated from the herb. Nagao, T., Tanaka, R., Iwase, Y., Okabe, H. Chem. Pharm. Bull. (1993) [Pubmed]
  17. A variable monilethrix phenotype associated with a novel mutation, Glu402Lys, in the helix termination motif of the type II hair keratin hHb1. Winter, H., Labrèze, C., Chapalain, V., Surlève-Bazeille, J.E., Mercier, M., Rogers, M.A., Taieb, A., Schweizer, J. J. Invest. Dermatol. (1998) [Pubmed]
  18. Biodegradation of the hexahydro-1,3,5-trinitro-1,3,5-triazine ring cleavage product 4-nitro-2,4-diazabutanal by Phanerochaete chrysosporium. Fournier, D., Halasz, A., Spain, J., Spanggord, R.J., Bottaro, J.C., Hawari, J. Appl. Environ. Microbiol. (2004) [Pubmed]
  19. Characterization of metabolites during biodegradation of hexahydro-1, 3,5-trinitro-1,3,5-triazine (RDX) with municipal anaerobic sludge. Hawari, J., Halasz, A., Sheremata, T., Beaudet, S., Groom, C., Paquet, L., Rhofir, C., Ampleman, G., Thiboutot, S. Appl. Environ. Microbiol. (2000) [Pubmed]
  20. Characterization and chromosomal localization of human hair-specific keratin genes and comparative expression during the hair growth cycle. Bowden, P.E., Hainey, S.D., Parker, G., Jones, D.O., Zimonjic, D., Popescu, N., Hodgins, M.B. J. Invest. Dermatol. (1998) [Pubmed]
  21. Haemoglobin of the antarctic fish Pagothenia bernacchii. Amino acid sequence, oxygen equilibria and crystal structure of its carbonmonoxy derivative. Camardella, L., Caruso, C., D'Avino, R., di Prisco, G., Rutigliano, B., Tamburrini, M., Fermi, G., Perutz, M.F. J. Mol. Biol. (1992) [Pubmed]
 
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