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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Gene Deletion

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Disease relevance of Gene Deletion


Psychiatry related information on Gene Deletion


High impact information on Gene Deletion

  • We generated mice with a targeted gene deletion of S-nitrosoglutathione reductase (GSNOR), and show that they exhibit substantial increases in whole-cell S-nitrosylation, tissue damage, and mortality following endotoxic or bacterial challenge [9].
  • The pattern of expression of the USH1C protein is consistent with the clinical features exhibited by individuals with the contiguous gene deletion and with isolated Usher type 1C [10].
  • Targeted gene deletion of dHAND in mouse embryos resulted in embryonic lethality at embryonic day 10.5 from heart failure [11].
  • The high level of genomic detail in this region allowed us to characterize the first complete emerin gene deletion mutation that also involved a partial duplication of the nearby FLN1 gene [12].
  • We show that two mottled (Mo) alleles, dappled (Modp) and blotchy (Moblo), have abnormalities in the murine mRNA and that Modp has a partial gene deletion [13].

Chemical compound and disease context of Gene Deletion


Biological context of Gene Deletion


Anatomical context of Gene Deletion


Associations of Gene Deletion with chemical compounds

  • Partial deficiencies of C4A and C4B, primarily due to gene deletions and homoexpression of C4A proteins, have a combined frequency of 31.6% [29].
  • 3. However, only some C4 null alleles are due to gene deletions, the remainder were thought to be nonexpressed genes [30].
  • This proposal was supported by our finding that individuals with these immunodeficiencies have in common a high incidence of C4A gene deletions and C2 rare gene alleles [31].
  • In contrast, the only biochemical abnormalities detected in subjects with the MAO-B gene deletion are a complete absence of platelet MAO-B activity and an increased urinary excretion of phenylethylamine [32].
  • We report the generation of GDPMP gene deletion mutants of this human pathogen that are devoid of detectable GDPMP activity and completely lack mannose-containing glycoproteins and glycolipids, such as lipophosphoglycan, proteophosphoglycans, glycosylphosphatidylinositol protein membrane anchors, glycoinositolphospholipids and N-glycans [33].

Gene context of Gene Deletion

  • To study the role of cytokines in long-term cardiac allografts we have used recipient mice with targeted gene deletions (-/-) in IFN-gamma, IL-4, or IL-10 [34].
  • This was confirmed in mice heterozygous for Ttf1 gene deletion, heretofore considered to be normal [35].
  • Our results show that there is a very high frequency (33%) of 21-hydroxylase deficiency haplotypes where functional CYP21B gene sequence has been removed as a consequence of CYP21 + C4 gene deletion while several haplotypes show evidence of gene addition [36].
  • Furthermore, the metabolic adaptation to a change in carbon source, a complex multistep process, was unaffected in a DJP1 gene deletion mutant [37].
  • We hypothesized that gross gene deletions and mutations in the PTEN promoter might alternatively account for a subset of apparently mutation-negative patients with CS and BRRS [38].

Analytical, diagnostic and therapeutic context of Gene Deletion


  1. Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies. Chelly, J., Gilgenkrantz, H., Lambert, M., Hamard, G., Chafey, P., Récan, D., Katz, P., de la Chapelle, A., Koenig, M., Ginjaar, I.B. Cell (1990) [Pubmed]
  2. Navigating the chaperone network: an integrative map of physical and genetic interactions mediated by the hsp90 chaperone. Zhao, R., Davey, M., Hsu, Y.C., Kaplanek, P., Tong, A., Parsons, A.B., Krogan, N., Cagney, G., Mai, D., Greenblatt, J., Boone, C., Emili, A., Houry, W.A. Cell (2005) [Pubmed]
  3. Glutathione S-transferase mu and theta polymorphisms and breast cancer susceptibility. García-Closas, M., Kelsey, K.T., Hankinson, S.E., Spiegelman, D., Springer, K., Willett, W.C., Speizer, F.E., Hunter, D.J. J. Natl. Cancer Inst. (1999) [Pubmed]
  4. Developmental adaptation of the mouse cardiovascular system to elastin haploinsufficiency. Faury, G., Pezet, M., Knutsen, R.H., Boyle, W.A., Heximer, S.P., McLean, S.E., Minkes, R.K., Blumer, K.J., Kovacs, A., Kelly, D.P., Li, D.Y., Starcher, B., Mecham, R.P. J. Clin. Invest. (2003) [Pubmed]
  5. Early-onset autoimmune hepatitis is associated with a C4A gene deletion. Scully, L.J., Toze, C., Sengar, D.P., Goldstein, R. Gastroenterology (1993) [Pubmed]
  6. Endogenous neurotrophin-3 supports the survival of a subpopulation of sensory neurons in neonatal rat. Zhou, X.F., Cameron, D., Rush, R.A. Neuroscience (1998) [Pubmed]
  7. Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2). Potocki, L., Shaffer, L.G. Am. J. Med. Genet. (1996) [Pubmed]
  8. Lack of association between angiotensin I-converting enzyme insertion/deletion gene functional polymorphism and panic disorder in humans. Shimizu, E., Hashimoto, K., Kobayashi, K., Mitsumori, M., Ohgake, S., Koizumi, H., Okamura, N., Koike, K., Kumakiri, C., Nakazato, M., Komatsu, N., Iyo, M. Neurosci. Lett. (2004) [Pubmed]
  9. Essential roles of S-nitrosothiols in vascular homeostasis and endotoxic shock. Liu, L., Yan, Y., Zeng, M., Zhang, J., Hanes, M.A., Ahearn, G., McMahon, T.J., Dickfeld, T., Marshall, H.E., Que, L.G., Stamler, J.S. Cell (2004) [Pubmed]
  10. A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. Bitner-Glindzicz, M., Lindley, K.J., Rutland, P., Blaydon, D., Smith, V.V., Milla, P.J., Hussain, K., Furth-Lavi, J., Cosgrove, K.E., Shepherd, R.M., Barnes, P.D., O'Brien, R.E., Farndon, P.A., Sowden, J., Liu, X.Z., Scanlan, M.J., Malcolm, S., Dunne, M.J., Aynsley-Green, A., Glaser, B. Nat. Genet. (2000) [Pubmed]
  11. Regulation of cardiac mesodermal and neural crest development by the bHLH transcription factor, dHAND. Srivastava, D., Thomas, T., Lin, Q., Kirby, M.L., Brown, D., Olson, E.N. Nat. Genet. (1997) [Pubmed]
  12. Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats. Small, K., Iber, J., Warren, S.T. Nat. Genet. (1997) [Pubmed]
  13. The mottled gene is the mouse homologue of the Menkes disease gene. Levinson, B., Vulpe, C., Elder, B., Martin, C., Verley, F., Packman, S., Gitschier, J. Nat. Genet. (1994) [Pubmed]
  14. Glutathione S-transferase gene deletions in myelodysplasia. Atoyebi, W., Kusec, R., Fidler, C., Peto, T.E., Boultwood, J., Wainscoat, J.S. Lancet (1997) [Pubmed]
  15. The contribution of glycoprotein VI to stable platelet adhesion and thrombus formation illustrated by targeted gene deletion. Kato, K., Kanaji, T., Russell, S., Kunicki, T.J., Furihata, K., Kanaji, S., Marchese, P., Reininger, A., Ruggeri, Z.M., Ware, J. Blood (2003) [Pubmed]
  16. Angiotensin II type 1 receptor A1166C gene polymorphism. Absence of an association with the risk of coronary artery disease and myocardial infarction and of a synergistic effect with angiotensin-converting enzyme gene polymorphism on the risk of these diseases. Gardemann, A., Nguyen, Q.D., Humme, J., Stricker, J., Katz, N., Tillmanns, H., Hehrlein, F.W., Rau, M., Haberbosch, W. Eur. Heart J. (1998) [Pubmed]
  17. Determination of deletion sizes in the MHC-linked complement C4 and steroid 21-hydroxylase genes by pulsed-field gel electrophoresis. Partanen, J., Kere, J., Wessberg, S., Koskimies, S. Genomics (1989) [Pubmed]
  18. Rb and p53 gene deletions in lung adenocarcinomas from irradiated and control mice. Zhang, Y., Woloschak, G.E. Radiat. Res. (1997) [Pubmed]
  19. Preimplantation single cell analyses of dystrophin gene deletions using whole genome amplification. Kristjansson, K., Chong, S.S., Van den Veyver, I.B., Subramanian, S., Snabes, M.C., Hughes, M.R. Nat. Genet. (1994) [Pubmed]
  20. The deletion in a type of delta 0-beta 0-thalassaemia begins in an inverted AluI repeat. Ottolenghi, S., Giglioni, B. Nature (1982) [Pubmed]
  21. The organization of the mouse Igh-V locus. Dispersion, interspersion, and the evolution of VH gene family clusters. Brodeur, P.H., Osman, G.E., Mackle, J.J., Lalor, T.M. J. Exp. Med. (1988) [Pubmed]
  22. PTG gene deletion causes impaired glycogen synthesis and developmental insulin resistance. Crosson, S.M., Khan, A., Printen, J., Pessin, J.E., Saltiel, A.R. J. Clin. Invest. (2003) [Pubmed]
  23. UFD1L and CDC45L: a role in DiGeorge syndrome and related phenotypes? Novelli, G., Amati, F., Dallapiccola, B. Trends Genet. (1999) [Pubmed]
  24. Site-specific deletions involving the tal-1 and sil genes are restricted to cells of the T cell receptor alpha/beta lineage: T cell receptor delta gene deletion mechanism affects multiple genes. Breit, T.M., Mol, E.J., Wolvers-Tettero, I.L., Ludwig, W.D., van Wering, E.R., van Dongen, J.J. J. Exp. Med. (1993) [Pubmed]
  25. Early interleukin 12 production by macrophages in response to mycobacterial infection depends on interferon gamma and tumor necrosis factor alpha. Flesch, I.E., Hess, J.H., Huang, S., Aguet, M., Rothe, J., Bluethmann, H., Kaufmann, S.H. J. Exp. Med. (1995) [Pubmed]
  26. Illegitimate transcription. Application to the analysis of truncated transcripts of the dystrophin gene in nonmuscle cultured cells from Duchenne and Becker patients. Chelly, J., Gilgenkrantz, H., Hugnot, J.P., Hamard, G., Lambert, M., Récan, D., Akli, S., Cometto, M., Kahn, A., Kaplan, J.C. J. Clin. Invest. (1991) [Pubmed]
  27. Undermining the endothelium by ablation of MAPK-MEF2 signaling. Olson, E.N. J. Clin. Invest. (2004) [Pubmed]
  28. Retention of NMDA receptor NR2 subunits in the lumen of endoplasmic reticulum in targeted NR1 knockout mice. Fukaya, M., Kato, A., Lovett, C., Tonegawa, S., Watanabe, M. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  29. Deficiencies of human complement component C4A and C4B and heterozygosity in length variants of RP-C4-CYP21-TNX (RCCX) modules in caucasians. The load of RCCX genetic diversity on major histocompatibility complex-associated disease. Blanchong, C.A., Zhou, B., Rupert, K.L., Chung, E.K., Jones, K.N., Sotos, J.F., Zipf, W.B., Rennebohm, R.M., Yung Yu, C. J. Exp. Med. (2000) [Pubmed]
  30. Null alleles of human complement C4. Evidence for pseudogenes at the C4A locus and for gene conversion at the C4B locus. Braun, L., Schneider, P.M., Giles, C.M., Bertrams, J., Rittner, C. J. Exp. Med. (1990) [Pubmed]
  31. Major histocompatibility complex class III genes and susceptibility to immunoglobulin A deficiency and common variable immunodeficiency. Volanakis, J.E., Zhu, Z.B., Schaffer, F.M., Macon, K.J., Palermos, J., Barger, B.O., Go, R., Campbell, R.D., Schroeder, H.W., Cooper, M.D. J. Clin. Invest. (1992) [Pubmed]
  32. Specific genetic deficiencies of the A and B isoenzymes of monoamine oxidase are characterized by distinct neurochemical and clinical phenotypes. Lenders, J.W., Eisenhofer, G., Abeling, N.G., Berger, W., Murphy, D.L., Konings, C.H., Wagemakers, L.M., Kopin, I.J., Karoum, F., van Gennip, A.H., Brunner, H.G. J. Clin. Invest. (1996) [Pubmed]
  33. Disruption of mannose activation in Leishmania mexicana: GDP-mannose pyrophosphorylase is required for virulence, but not for viability. Garami, A., Ilg, T. EMBO J. (2001) [Pubmed]
  34. Heart transplants in interferon-gamma, interleukin 4, and interleukin 10 knockout mice. Recipient environment alters graft rejection. Räisänen-Sokolowski, A., Mottram, P.L., Glysing-Jensen, T., Satoskar, A., Russell, M.E. J. Clin. Invest. (1997) [Pubmed]
  35. Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice. Pohlenz, J., Dumitrescu, A., Zundel, D., Martiné, U., Schönberger, W., Koo, E., Weiss, R.E., Cohen, R.N., Kimura, S., Refetoff, S. J. Clin. Invest. (2002) [Pubmed]
  36. Pulsed field gel electrophoresis identifies a high degree of variability in the number of tandem 21-hydroxylase and complement C4 gene repeats in 21-hydroxylase deficiency haplotypes. Collier, S., Sinnott, P.J., Dyer, P.A., Price, D.A., Harris, R., Strachan, T. EMBO J. (1989) [Pubmed]
  37. The cytosolic DnaJ-like protein djp1p is involved specifically in peroxisomal protein import. Hettema, E.H., Ruigrok, C.C., Koerkamp, M.G., van den Berg, M., Tabak, H.F., Distel, B., Braakman, I. J. Cell Biol. (1998) [Pubmed]
  38. Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway. Zhou, X.P., Waite, K.A., Pilarski, R., Hampel, H., Fernandez, M.J., Bos, C., Dasouki, M., Feldman, G.L., Greenberg, L.A., Ivanovich, J., Matloff, E., Patterson, A., Pierpont, M.E., Russo, D., Nassif, N.T., Eng, C. Am. J. Hum. Genet. (2003) [Pubmed]
  39. The haptoglobin-gene deletion responsible for anhaptoglobinemia. Koda, Y., Soejima, M., Yoshioka, N., Kimura, H. Am. J. Hum. Genet. (1998) [Pubmed]
  40. Deletion of Bax eliminates sex differences in the mouse forebrain. Forger, N.G., Rosen, G.J., Waters, E.M., Jacob, D., Simerly, R.B., de Vries, G.J. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  41. The genetic ablation of cyclooxygenase 2 prevents the development of autoimmune arthritis. Myers, L.K., Kang, A.H., Postlethwaite, A.E., Rosloniec, E.F., Morham, S.G., Shlopov, B.V., Goorha, S., Ballou, L.R. Arthritis Rheum. (2000) [Pubmed]
  42. Preprotachykinin-A gene products are key mediators of lung injury in polymicrobial sepsis. Puneet, P., Hegde, A., Ng, S.W., Lau, H.Y., Lu, J., Moochhala, S.M., Bhatia, M. J. Immunol. (2006) [Pubmed]
  43. Increased levels of p21WAF1/Cip1 in human brain tumors. Jung, J.M., Bruner, J.M., Ruan, S., Langford, L.A., Kyritsis, A.P., Kobayashi, T., Levin, V.A., Zhang, W. Oncogene (1995) [Pubmed]
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