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Gene Review

DIAPH1  -  diaphanous-related formin 1

Homo sapiens

Synonyms: DFNA1, DIA1, DIAP1, DRF1, Diaphanous-related formin-1, ...
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Disease relevance of DIAPH1

  • The gene responsible for autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive hearing loss in a large Costa Rican kindred was previously localized to chromosome 5q31 and named DFNA1 [1].
  • Moreover, overexpression of p300 resulted in an increase in the level of DRF1 complex. p300 fused to the DNA binding domain of the E2 protein of papilloma virus stimulated E2-dependent reporter activity in response to RA or E1A in F9 cells [2].
  • Eighteen patients with low-frequency hearing loss ( LFHL ), 10 males and 8 females with an average age of 27 years, were examined in order to classify their hearing loss, i.e. to find the topical site of the hearing lesion and to evaluate the aetiology of the hearing disorder [3].

High impact information on DIAPH1

part of a positive feedback loop amplifying signals through rho-ROCK via activation of LARG [4]

essential for myosin function and feedback activation of RhoA through LARG in neutrophil motility and polarity [5]


Biological context of DIAPH1

  • None of the hitherto-known DFNA loci, which has phenotypes bearing some resemblance to MD, had haplotypes in common with this large family affected by MD [10].
  • A second human Dbf4/ASK-related protein, Drf1/ASKL1, is required for efficient progression of S and M phases [11].
  • Moreover, we found that the KRE-M9 binding protein could serve as a differentiation repressing factor 1 (DRF-1) as shown by the decrease in levels of this protein with differentiation [12].
  • Investigating a large German pedigree with non-syndromic hearing impairment of early onset and autosomal dominant mode of inheritance, linkage to known DFNA loci was excluded and in a subsequent genomic scan the phenotype was mapped to a 10-cM interval on chromosome 3q22; a maximum two-point lod score of 3.77 was obtained for the marker D3S1292 [13].
  • After exclusion of the known DFNA loci with markers from the Hereditary Hearing Loss Homepage (URL:, a genome wide scan was carried out using 358 highly informative microsatellite markers [14].

Anatomical context of DIAPH1


Regulatory relationships of DIAPH1

  • Dia1 localizes to and controls cadherin-mediated junctions in a RhoA-dependent manner [18].

Other interactions of DIAPH1

  • By the candidate gene approach, mutation screening of the DIAPH1 and POU4F3 genes at 5q31 was performed [19].
  • Only two NSHHI loci, DFNA1 and DFNA6/14/38, are associated with predominantly low-frequency loss [20].
  • Candidate genes including COL4A5, DIAPH, and POU3F4 were excluded by clinical and molecular analyses [21].

Analytical, diagnostic and therapeutic context of DIAPH1

  • RESULTS: During spirometry, the diaphragm inspiratory amplitude (DIA) increased from 1.34 +/- 0.18 cm to 1.80 +/- 0.18 cm (P = 0.007), whereas the diaphragmatic inspiratory (T1 diaph) increased from 1.27 +/- 0.15 to 1.53 +/- 0.23 sec, (P = 0.015, without change in diaphragmatic total time interval (Ttot diaph) [22].


  1. Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. Lynch, E.D., Lee, M.K., Morrow, J.E., Welcsh, P.L., León, P.E., King, M.C. Science (1997) [Pubmed]
  2. Phosphorylation of the adenovirus E1A-associated 300 kDa protein in response to retinoic acid and E1A during the differentiation of F9 cells. Kitabayashi, I., Eckner, R., Arany, Z., Chiu, R., Gachelin, G., Livingston, D.M., Yokoyama, K.K. EMBO J. (1995) [Pubmed]
  3. Inherited low-frequency hearing loss. A new mixed conductive/sensorineural entity? Parving, A. Scandinavian audiology. (1984) [Pubmed]
  4. Positive feedback between Dia1, LARG, and RhoA regulates cell morphology and invasion. Kitzing, T.M., Sahadevan, A.S., Brandt, D.T., Knieling, H., Hannemann, S., Fackler, O.T., Grosshans, J., Grosse, R. Genes. Dev. (2007) [Pubmed]
  5. The mDial formin is required for neutrophil polarization, migration, and activation of the LARG/RhoA/ROCK signaling axis during chemotaxis. Shi, Y., Zhang, J., Mullin, M., Dong, B., Alberts, A.S., Siminovitch, K.A. J. Immunol. (2009) [Pubmed]
  6. The Drosophila Mst ortholog, hippo, restricts growth and cell proliferation and promotes apoptosis. Harvey, K.F., Pfleger, C.M., Hariharan, I.K. Cell (2003) [Pubmed]
  7. RhoD regulates endosome dynamics through Diaphanous-related Formin and Src tyrosine kinase. Gasman, S., Kalaidzidis, Y., Zerial, M. Nat. Cell Biol. (2003) [Pubmed]
  8. Drf1, a novel regulatory subunit for human Cdc7 kinase. Montagnoli, A., Bosotti, R., Villa, F., Rialland, M., Brotherton, D., Mercurio, C., Berthelsen, J., Santocanale, C. EMBO J. (2002) [Pubmed]
  9. The bundling activity of vasodilator-stimulated phosphoprotein is required for filopodium formation. Schirenbeck, A., Arasada, R., Bretschneider, T., Stradal, T.E., Schleicher, M., Faix, J. Proc. Natl. Acad. Sci. U.S.A. (2006) [Pubmed]
  10. Familial Ménière's disease in five generations. Frykholm, C., Larsen, H.C., Dahl, N., Klar, J., Rask-Andersen, H., Friberg, U. Otol. Neurotol. (2006) [Pubmed]
  11. A second human Dbf4/ASK-related protein, Drf1/ASKL1, is required for efficient progression of S and M phases. Yoshizawa-Sugata, N., Ishii, A., Taniyama, C., Matsui, E., Arai, K., Masai, H. J. Biol. Chem. (2005) [Pubmed]
  12. Matrix metalloproteinase 9 expression is coordinately modulated by the KRE-M9 and 12-O-tetradecanoyl-phorbol-13-acetate responsive elements. Kobayashi, T., Kishimoto, J., Hattori, S., Wachi, H., Shinkai, H., Burgeson, R.E. J. Invest. Dermatol. (2004) [Pubmed]
  13. A novel locus for autosomal dominant, non-syndromic hearing impairment (DFNA18) maps to chromosome 3q22 immediately adjacent to the DM2 locus. Bönsch, D., Scheer, P., Neumann, C., Lang-Roth, R., Seifert, E., Storch, P., Weiller, C., Lamprecht-Dinnesen, A., Deufel, T. Eur. J. Hum. Genet. (2001) [Pubmed]
  14. Mapping of a new autosomal dominant non-syndromic hearing loss locus (DFNA43) to chromosome 2p12. Flex, E., Mangino, M., Mazzoli, M., Martini, A., Migliosi, V., Colosimo, A., Mingarelli, R., Pizzuti, A., Dallapiccola, B. J. Med. Genet. (2003) [Pubmed]
  15. RhoB regulates endosome transport by promoting actin assembly on endosomal membranes through Dia1. Fernandez-Borja, M., Janssen, L., Verwoerd, D., Hordijk, P., Neefjes, J. J. Cell. Sci. (2005) [Pubmed]
  16. Oligomerization of the diaphanous-related formin FHOD1 requires a coiled-coil motif critical for its cytoskeletal and transcriptional activities. Madrid, R., Gasteier, J.E., Bouchet, J., Schröder, S., Geyer, M., Benichou, S., Fackler, O.T. FEBS Lett. (2005) [Pubmed]
  17. Further characterization of the DFNA1 audiovestibular phenotype. Lalwani, A.K., Jackler, R.K., Sweetow, R.W., Lynch, E.D., Raventós, H., Morrow, J., King, M.C., León, P.E. Arch. Otolaryngol. Head Neck Surg. (1998) [Pubmed]
  18. Mammalian diaphanous-related formin Dia1 controls the organization of E-cadherin-mediated cell-cell junctions. Carramusa, L., Ballestrem, C., Zilberman, Y., Bershadsky, A.D. J. Cell. Sci. (2007) [Pubmed]
  19. A novel locus for autosomal dominant nonsyndromic hearing loss identified at 5q31.1-32 in a Chinese pedigree. Xia, J., Deng, H., Feng, Y., Zhang, H., Pan, Q., Dai, H., Long, Z., Tang, B., Deng, H., Chen, Y., Zhang, R., Zheng, D., He, Y., Xia, K. J. Hum. Genet. (2002) [Pubmed]
  20. DFNA54, a third locus for low-frequency hearing loss. Gürtler, N., Kim, Y., Mhatre, A., Schlegel, C., Mathis, A., Lalwani, A.K. J. Mol. Med. (2004) [Pubmed]
  21. Characterisation and genetic mapping of a new X linked deafness syndrome. Martin, D.M., Probst, F.J., Camper, S.A., Petty, E.M. J. Med. Genet. (2000) [Pubmed]
  22. Non-invasive quantification of diaphragm kinetics using m-mode sonography. Ayoub, J., Cohendy, R., Dauzat, M., Targhetta, R., De la Coussaye, J.E., Bourgeois, J.M., Ramonatxo, M., Prefaut, C., Pourcelot, L. Canadian journal of anaesthesia = Journal canadien d'anesthésie. (1997) [Pubmed]
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