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Gene Review

DIAPH2  -  diaphanous-related formin 2

Homo sapiens

Synonyms: DIA, DIA2, DRF2, Diaphanous-related formin-2, POF, ...
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Disease relevance of DIAPH2

  • Fragile X syndrome: of POF and premutations [1].
  • To document mechanisms contributing to upper airway collapse, we compared the electromyographic activity of the genioglossus (GG) and diaphragm (DIA) during spontaneous mixed and obstructive apnea and during induced end-expiratory airway occlusion in 11 premature infants [2].
  • We describe the changes in proportions of myofibrillar proteins elicited by chronic congestive heart failure in the costal diaphragm (DIA) of humans using one and two-dimensional electrophoretic techniques [3].
  • In addition, CIA significantly reduced SH EMG but not DIA EMG responses to acute hypoxia and asphyxia [4].
  • Mechanical stimulation of the epipharynx evoked a fixed motor pattern of hiccup: DIA showed spasmodic discharge, and Ppl exhibited spiky negative pressure swing; phasic (inspiratory) discharge of PCA was inhibited, and glottic adduction was revealed by direct observation; and ABD remained suppressed during this response [5].

High impact information on DIAPH2

  • We also found factors, designated DRF1 and DRF2, that bound specifically to a sequence element that is necessary and sufficient for RA- and E1A-mediated up-regulation of the c-jun gene [6].
  • We propose that the human DIA gene is one of the genes responsible for POF and that it affects the cell divisions that lead to ovarian follicle formation [7].
  • We report variation in the short-term effects of adult OVX in three regions of the distal femur: the diaphysis (DIA), the metaphysis (META), and the epiphysis (EPI) [8].
  • Methylation of the ring nitrogen of DIA markedly decreases the inhibition of all the glycosidases except N-acetyl-beta-D-hexosaminidase [9].
  • The synthetic amino sugar 1,4-dideoxy-1,4-imino-L-allitol (DIA) is a moderately good inhibitor of human liver alpha-D-mannosidases and a weak inhibitor of alpha-L-fucosidase, N-acetyl-beta-D-hexosaminidase and beta-D-mannosidase [9].

Chemical compound and disease context of DIAPH2

  • We recorded tidal volume, airflow, and DIA and PCA electromyograms (EMG) in 12 full-term, 14 premature, and 10 premature infants with apnea treated with aminophylline [10].
  • SETTING: Department of Physiology, Royal College of Surgeons in Ireland, Dublin, Ireland. MEASUREMENTS: Sternohyoid (SH) muscle and diaphragm (DIA) muscle EMG activities were recorded in both groups during normoxia, hypoxia (7.5% O(2) in N(2)), and asphyxia (7.5% O(2) and 3% CO(2)) under pentobarbitone anesthesia [4].
  • These strains were serologically unrelated to avian leukosis virus but were related to RE virus strains T, CS, DIA, and SN [11].
  • A simple, specific and economical dipstick immunobinding enzyme-linked immunosorbent assay (DIA) for detecting hepatitis B surface antigen (HBsAg) and antibodies to hepatitis delta virus (anti-HDV), utilizing cellulose nitrate membrane is described [12].

Biological context of DIAPH2

  • The X-linked zinc finger gene (ZFX) and diaphanous 2 Drosophila homologue (DIAPH2) are the only candidate genes for ovarian maintenance that map to the X chromosome [13].
  • Some experimental evidence suggests that these genes might be clustered on the female sex chromosome in the POF1 and POF2 loci [14].
  • The DRF-2 nuclear protein binds equally well to the MCK MEF-2 binding site and to the A/T-rich regulatory element of the skeletal muscle fast-twitch troponin C gene (Gahlmann and Kedes 1990) [15].
  • Thus, muscle-specific regulation of the human skeletal alpha-actin gene appears to require interactions between the other elements of the composite DRE enhancer with the protein:DNA complex formed by DRF-2 [15].
  • We conclude that the DRF-2 binding element is a MEF-2 binding site that is required but insufficient for regulation of muscle-specific skeletal alpha-actin gene expression by the DRE [15].

Anatomical context of DIAPH2

  • The DRF-2 site alone, however, does not activate transcription in muscle cells when linked to the SV40 promoter [15].
  • The specific roles of the human DIA and FMR1 gene products in germ cell development need clarification in murine models, and there are more as yet unidentified genes residing on the long arm of the X chromosome that are also implicated in the regulation of human ovarian function [16].
  • Furthermore, simultaneous recording of LAR and DIA EMGs suggests that upper airway and chest wall muscles have different effects on expiratory flow patterns in human infants [17].
  • Aortic systolic and diastolic cross-sectional areas were measured at the ascending and descending aorta (AA and DA), diaphragm (DIA), and lower abdominal aorta (AB) [18].
  • Capillary supply is most abundant in the expiratory muscles followed by DIA and the inspiratory intercostal muscles [19].

Associations of DIAPH2 with chemical compounds

  • Like the MEF-2 binding site in the muscle creatine kinase enhancer, the critical DRF-2 binding site is also an A/T-rich sequence element [15].
  • Furthermore, this troponin C site competes in vivo for DRF-2 driven expression of the skeletal alpha-actin gene in C2 cells [15].
  • Detailed investigation of the gonadotropin-releasing hormone-luteinizing hormone system, the somatotrophic axis, the adrenal glucocorticoid and androgen axes, and the prolactin axis have led us to conclude that women with POF are not prematurely aged in any endocrine system other than the ovary [20].
  • Inhalation of 4% CO2 increased both peak LAR and DIA EMGs but did not alter their temporal relationships [17].
  • The amelioration of gCl was drug- and muscle-specific: taurine was effective in EDL, but not in DIA muscle; IGF-1 and PDN were fully restorative in both muscles, whereas creatine was ineffective [21].

Analytical, diagnostic and therapeutic context of DIAPH2

  • 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].
  • STUDY DESIGN: This was a cross-sectional survey of women with elevated follicle stimulating hormone levels with (premature ovarian failure or early menopause [POF/EM], n = 20) or without (diminished ovarian reserve [DOR], n = 20) amenorrhea [23].
  • During quiet breathing, the diaphragm inspiratory amplitude (DIA) was significantly decreased after surgery from 1.4 +/- 0.2 cm to 1 +/- 0.1 cm and from 1.6 +/- 0.3 cm to 1.2 +/- 0.3 cm in the Laparoscopic and Open Cholecystectomy groups, respectively [24].
  • After 4 wk, the DIA was analyzed histochemically and biochemically (IGF-I mRNA levels by RT-PCR and endogenous and exogenous IGF-I peptide levels immunochemically) [25].
  • Screening of 815 serum specimens for HBsAg by DIA and micro ELISA revealed a positivity of 22.69% and 22.94% respectively [12].


  1. Fragile X syndrome: of POF and premutations. Macpherson, J., Murray, A., Webb, J., Jacobs, P. J. Med. Genet. (1999) [Pubmed]
  2. Genioglossus and diaphragm activity during obstructive apnea and airway occlusion in infants. Gauda, E.B., Miller, M.J., Carlo, W.A., DiFiore, J.M., Martin, R.J. Pediatr. Res. (1989) [Pubmed]
  3. Changes in myofibrillar protein composition of human diaphragm elicited by congestive heart failure. Tikunov, B.A., Mancini, D., Levine, S. J. Mol. Cell. Cardiol. (1996) [Pubmed]
  4. Chronic intermittent asphyxia impairs rat upper airway muscle responses to acute hypoxia and asphyxia. O'Halloran, K.D., McGuire, M., O'Hare, T., Bradford, A. Chest (2002) [Pubmed]
  5. Hiccuplike response elicited by mechanical stimulation of dorsal epipharynx of cats. Oshima, T., Sakamoto, M., Arita, H. J. Appl. Physiol. (1994) [Pubmed]
  6. 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]
  7. A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. Bione, S., Sala, C., Manzini, C., Arrigo, G., Zuffardi, O., Banfi, S., Borsani, G., Jonveaux, P., Philippe, C., Zuccotti, M., Ballabio, A., Toniolo, D. Am. J. Hum. Genet. (1998) [Pubmed]
  8. Variation in the short-term changes in bone cell activity in three regions of the distal femur immediately following ovariectomy. Baldock, P.A., Morris, H.A., Need, A.G., Moore, R.J., Durbridge, T.C. J. Bone Miner. Res. (1998) [Pubmed]
  9. Change in specificity of glycosidase inhibition by N-alkylation of amino sugars. al Daher, S., Fleet, G., Namgoong, S.K., Winchester, B. Biochem. J. (1989) [Pubmed]
  10. Developmental changes in sequential activation of laryngeal abductor muscle and diaphragm in infants. Eichenwald, E.C., Howell, R.G., Kosch, P.C., Ungarelli, R.A., Lindsey, J., Stark, R. J. Appl. Physiol. (1992) [Pubmed]
  11. Characteristics of two new reticuloendotheliosis virus isolates of turkeys. Paul, P.S., Pomeroy, K.A., Muscoplat, C.C., Pomeroy, B.S., Sarma, P.S. Am. J. Vet. Res. (1977) [Pubmed]
  12. A dipstick immunobinding enzyme-linked immunosorbent assay for serodiagnosis of hepatitis B and delta virus infections. Sumathy, S., Thyagarajan, S.P., Latif, R., Madanagopalan, N., Raguram, K., Rajasambandam, P., Gowans, E. J. Virol. Methods (1992) [Pubmed]
  13. Ovarian differentiation and gonadal failure. Simpson, J.L., Rajkovic, A. Am. J. Med. Genet. (1999) [Pubmed]
  14. Premature ovarian failure (POF) syndrome: towards the molecular clinical analysis of its genetic complexity. Fassnacht, W., Mempel, A., Strowitzki, T., Vogt, P.H. Current medicinal chemistry. (2006) [Pubmed]
  15. The human skeletal alpha-actin gene is regulated by a muscle-specific enhancer that binds three nuclear factors. Muscat, G.E., Perry, S., Prentice, H., Kedes, L. Gene Expr. (1992) [Pubmed]
  16. The genetic origins of ovarian failure. Bondy, C.A., Nelson, L.M., Kalantaridou, S.N. Journal of women's health / the official publication of the Society for the Advancement of Women's Health Research. (1998) [Pubmed]
  17. Control of laryngeal muscle activity in preterm infants. Carlo, W.A., Kosch, P.C., Bruce, E.N., Strohl, K.P., Martin, R.J. Pediatr. Res. (1987) [Pubmed]
  18. Aortic reflection coefficients and their association with global indexes of wave reflection in healthy controls and patients with Marfan's syndrome. Segers, P., De Backer, J., Devos, D., Rabben, S.I., Gillebert, T.C., Van Bortel, L.M., De Sutter, J., De Paepe, A., Verdonck, P.R. Am. J. Physiol. Heart Circ. Physiol. (2006) [Pubmed]
  19. Human respiratory muscles: fibre morphology and capillary supply. Mizuno, M. Eur. Respir. J. (1991) [Pubmed]
  20. Research on the mechanisms of premature ovarian failure. Santoro, N. J. Soc. Gynecol. Investig. (2001) [Pubmed]
  21. Enhanced dystrophic progression in mdx mice by exercise and beneficial effects of taurine and insulin-like growth factor-1. De Luca, A., Pierno, S., Liantonio, A., Cetrone, M., Camerino, C., Fraysse, B., Mirabella, M., Servidei, S., Rüegg, U.T., Conte Camerino, D. J. Pharmacol. Exp. Ther. (2003) [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]
  23. Acceptance of fragile X premutation genetic screening in women with ovarian dysfunction. Pastore, L.M., Karns, L.B., Pinkerton, J.V., Silverman, L.M., Williams, C.D., Camp, T.R. Am. J. Obstet. Gynecol. (2006) [Pubmed]
  24. Diaphragm movement before and after cholecystectomy: a sonographic study. Ayoub, J., Cohendy, R., Prioux, J., Ahmaidi, S., Bourgeois, J.M., Dauzat, M., Ramonatxo, M., Préfaut, C. Anesth. Analg. (2001) [Pubmed]
  25. Insulin-like growth factor I prevents corticosteroid-induced diaphragm muscle atrophy in emphysematous hamsters. Fournier, M., Huang, Z.S., Li, H., Da, X., Cercek, B., Lewis, M.I. Am. J. Physiol. Regul. Integr. Comp. Physiol. (2003) [Pubmed]
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