The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review


Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of Homozygote


Psychiatry related information on Homozygote


High impact information on Homozygote


Chemical compound and disease context of Homozygote


Biological context of Homozygote

  • The cytosolic and nuclear Ah receptors were studied in the liver from inbred C57BL/6N (Ahb/Ahb) mice, inbred DBA/2N (Ahd/Ahd) mice and heterozygotes (Ahb/Ahd) and homozygotes (Ahd/Ahd) derived from the (C57BL/6N X DBA/2N)F1 X DBA/2N backcross [21].
  • Normal distribution of CFTR mRNA was found in CF tissues while expression of CFTR protein was genotype specific, with delta F508 homozygotes demonstrating no detectable protein and compound heterozygotes expressing decreased levels of normally distributed protein [22].
  • This phenotype is thought to result from the loss of a positive transacting factor, denoted alf, in deletion homozygotes [23].
  • A null c-myc mutation causes lethality before 10.5 days of gestation in homozygotes and reduced fertility in heterozygous female mice [24].
  • In the foot plates of the mutant homozygotes, both Bmp2 and Bmp7 expression and apoptotic interdigital cell death are reduced [25].

Anatomical context of Homozygote

  • Using gene targeting techniques, mice that have been generated with two germ-line p53 null alleles (homozygotes) develop normally but are highly susceptible to early onset spontaneous tumours [26].
  • In sm homozygotes, the apical ectodermal ridge (AER) is hyperplastic by embryonic day 10.5, leading to abnormal dorsoventral thickening of the limb bud, subsequent merging of the skeletal condensations that give rise to cartilage and bone in the digits, and eventual fusion of digits [27].
  • Erythrocytes of SS homozygotes exposed to oxygen or carbon monoxide decrease their potassium and water content through a pathway for potassium transport that is activated by both cell swelling and decrease in internal pH [28].
  • The Brg1 catalytic subunit of SWI/SNF-related complexes has been implicated in many developmental and physiological processes, but null homozygotes die as blastocysts prior to implantation [29].
  • Macrophages from Heedless homozygotes signaled by the MyD88-dependent pathway in response to rough lipopolysaccharide (LPS) and lipid A, but not in response to smooth LPS [30].

Associations of Homozygote with chemical compounds


Gene context of Homozygote

  • The fgf5neo and go mutations fail to complement one another, and exon 1 of Fgf5 is deleted in DNA from go homozygotes, demonstrating that go is a mutant allele of Fgf5 [35].
  • Here we show that, like db/db mice, lepr(S1138) homozygotes (s/s) are hyperphagic and obese [36].
  • We found that mutation of chico extends fruit fly median life-span by up to 48% in homozygotes and 36% in heterozygotes [37].
  • We find that c14CoS homozygotes which express transgenic Fah are complemented for all aspects of the complex lethal albino phenotype [38].
  • In support of this hypothesis, we show here that compound Foxc1; Foxc2 homozygotes die earlier and with much more severe defects than single homozygotes alone [39].

Analytical, diagnostic and therapeutic context of Homozygote


  1. Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4. Polymeropoulos, M.H., Swift, R.G., Swift, M. Nat. Genet. (1994) [Pubmed]
  2. Mutation of an axonemal dynein affects left-right asymmetry in inversus viscerum mice. Supp, D.M., Witte, D.P., Potter, S.S., Brueckner, M. Nature (1997) [Pubmed]
  3. The embryonic lethality of homozygous lethal yellow mice (Ay/Ay) is associated with the disruption of a novel RNA-binding protein. Michaud, E.J., Bultman, S.J., Stubbs, L.J., Woychik, R.P. Genes Dev. (1993) [Pubmed]
  4. Chlorpropamide action on renal concentrating mechanism in rats with hypothalamic diabetes insipidus. Kusano, E., Braun-Werness, J.L., Vick, D.J., Keller, M.J., Dousa, T.P. J. Clin. Invest. (1983) [Pubmed]
  5. Cystic fibrosis ciliary dyskinesia substances and pulmonary disease. Effects of ciliary dyskinesia substances on neutrophil movement in vitro. Wilson, G.B., Fudenberg, H.H., Parise, M.T., Floyd, E. J. Clin. Invest. (1981) [Pubmed]
  6. Hippocampal volumes in cognitively normal persons at genetic risk for Alzheimer's disease. Reiman, E.M., Uecker, A., Caselli, R.J., Lewis, S., Bandy, D., de Leon, M.J., De Santi, S., Convit, A., Osborne, D., Weaver, A., Thibodeau, S.N. Ann. Neurol. (1998) [Pubmed]
  7. Methionine 129 variant of human prion protein oligomerizes more rapidly than the valine 129 variant: implications for disease susceptibility to Creutzfeldt-Jakob disease. Tahiri-Alaoui, A., Gill, A.C., Disterer, P., James, W. J. Biol. Chem. (2004) [Pubmed]
  8. Circadian Clock mutation in dams disrupts nursing behavior and growth of pups. Hoshino, K., Wakatsuki, Y., Iigo, M., Shibata, S. Endocrinology (2006) [Pubmed]
  9. Genetic variation analysis in parkinson disease patients with and without hallucinations: case-control study. Goetz, C.G., Burke, P.F., Leurgans, S., Berry-Kravis, E., Blasucci, L.M., Raman, R., Zhou, L. Arch. Neurol. (2001) [Pubmed]
  10. A novel polymorphism in the proximal UCP3 promoter region: effect on skeletal muscle UCP3 mRNA expression and obesity in male non-diabetic Pima Indians. Schrauwen, P., Xia, J., Walder, K., Snitker, S., Ravussin, E. Int. J. Obes. Relat. Metab. Disord. (1999) [Pubmed]
  11. Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs. Jadeja, S., Smyth, I., Pitera, J.E., Taylor, M.S., van Haelst, M., Bentley, E., McGregor, L., Hopkins, J., Chalepakis, G., Philip, N., Perez Aytes, A., Watt, F.M., Darling, S.M., Jackson, I., Woolf, A.S., Scambler, P.J. Nat. Genet. (2005) [Pubmed]
  12. Disease-related conditions in relatives of patients with hemochromatosis. Bulaj, Z.J., Ajioka, R.S., Phillips, J.D., LaSalle, B.A., Jorde, L.B., Griffen, L.M., Edwards, C.Q., Kushner, J.P. N. Engl. J. Med. (2000) [Pubmed]
  13. Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia. Xu, P.X., Adams, J., Peters, H., Brown, M.C., Heaney, S., Maas, R. Nat. Genet. (1999) [Pubmed]
  14. Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma. Morissette, J., Clépet, C., Moisan, S., Dubois, S., Winstall, E., Vermeeren, D., Nguyen, T.D., Polansky, J.R., Côté, G., Anctil, J.L., Amyot, M., Plante, M., Falardeau, P., Raymond, V. Nat. Genet. (1998) [Pubmed]
  15. Redefining the genetic hierarchies controlling skeletal myogenesis: Pax-3 and Myf-5 act upstream of MyoD. Tajbakhsh, S., Rocancourt, D., Cossu, G., Buckingham, M. Cell (1997) [Pubmed]
  16. apo B gene knockout in mice results in embryonic lethality in homozygotes and neural tube defects, male infertility, and reduced HDL cholesterol ester and apo A-I transport rates in heterozygotes. Huang, L.S., Voyiaziakis, E., Markenson, D.F., Sokol, K.A., Hayek, T., Breslow, J.L. J. Clin. Invest. (1995) [Pubmed]
  17. Effect of sera from cystic fibrosis homozygotes and heterozygotes on glucose metabolism in Vero cells. Araki, H., Nakamura, K. Lancet (1978) [Pubmed]
  18. Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A. Matthijs, G., Schollen, E., Van Schaftingen, E., Cassiman, J.J., Jaeken, J. Am. J. Hum. Genet. (1998) [Pubmed]
  19. G protein-coupled cholecystokinin-B/gastrin receptors are responsible for physiological cell growth of the stomach mucosa in vivo. Nagata, A., Ito, M., Iwata, N., Kuno, J., Takano, H., Minowa, O., Chihara, K., Matsui, T., Noda, T. Proc. Natl. Acad. Sci. U.S.A. (1996) [Pubmed]
  20. Hepatic uptake of organic anions affects the plasma bilirubin level in subjects with Gilbert's syndrome mutations in UGT1A1. Persico, M., Persico, E., Bakker, C.T., Rigato, I., Amoroso, A., Torella, R., Bosma, P.J., Tiribelli, C., Ostrow, J.D. Hepatology (2001) [Pubmed]
  21. The Ah locus: correlation of intranuclear appearance of inducer-receptor complex with induction of cytochrome P1-450 mRNA. Tukey, R.H., Hannah, R.R., Negishi, M., Nebert, D.W., Eisen, H.J. Cell (1982) [Pubmed]
  22. Submucosal glands are the predominant site of CFTR expression in the human bronchus. Engelhardt, J.F., Yankaskas, J.R., Ernst, S.A., Yang, Y., Marino, C.R., Boucher, R.C., Cohn, J.A., Wilson, J.M. Nat. Genet. (1992) [Pubmed]
  23. Two genetically defined trans-acting loci coordinately regulate overlapping sets of liver-specific genes. Ruppert, S., Boshart, M., Bosch, F.X., Schmid, W., Fournier, R.E., Schütz, G. Cell (1990) [Pubmed]
  24. A null c-myc mutation causes lethality before 10.5 days of gestation in homozygotes and reduced fertility in heterozygous female mice. Davis, A.C., Wims, M., Spotts, G.D., Hann, S.R., Bradley, A. Genes Dev. (1993) [Pubmed]
  25. Defects in limb, craniofacial, and thymic development in Jagged2 mutant mice. Jiang, R., Lan, Y., Chapman, H.D., Shawber, C., Norton, C.R., Serreze, D.V., Weinmaster, G., Gridley, T. Genes Dev. (1998) [Pubmed]
  26. Spontaneous and carcinogen-induced tumorigenesis in p53-deficient mice. Harvey, M., McArthur, M.J., Montgomery, C.A., Butel, J.S., Bradley, A., Donehower, L.A. Nat. Genet. (1993) [Pubmed]
  27. Serrate2 is disrupted in the mouse limb-development mutant syndactylism. Sidow, A., Bulotsky, M.S., Kerrebrock, A.W., Bronson, R.T., Daly, M.J., Reeve, M.P., Hawkins, T.L., Birren, B.W., Jaenisch, R., Lander, E.S. Nature (1997) [Pubmed]
  28. Regulation of erythrocyte cation and water content in sickle cell anemia. Brugnara, C., Bunn, H.F., Tosteson, D.C. Science (1986) [Pubmed]
  29. A Brg1 mutation that uncouples ATPase activity from chromatin remodeling reveals an essential role for SWI/SNF-related complexes in beta-globin expression and erythroid development. Bultman, S.J., Gebuhr, T.C., Magnuson, T. Genes Dev. (2005) [Pubmed]
  30. CD14 is required for MyD88-independent LPS signaling. Jiang, Z., Georgel, P., Du, X., Shamel, L., Sovath, S., Mudd, S., Huber, M., Kalis, C., Keck, S., Galanos, C., Freudenberg, M., Beutler, B. Nat. Immunol. (2005) [Pubmed]
  31. A mutation in the Pax-6 gene in rat small eye is associated with impaired migration of midbrain crest cells. Matsuo, T., Osumi-Yamashita, N., Noji, S., Ohuchi, H., Koyama, E., Myokai, F., Matsuo, N., Taniguchi, S., Doi, H., Iseki, S. Nat. Genet. (1993) [Pubmed]
  32. Embryonic folate metabolism and mouse neural tube defects. Fleming, A., Copp, A.J. Science (1998) [Pubmed]
  33. Reduction in cholesterol and low density lipoprotein synthesis after portacaval shunt surgery in a patient with homozygous familial hypercholesterolemia. Bilheimer, D.W., Goldstein, J.L., Grundy, S.M., Brown, M.S. J. Clin. Invest. (1975) [Pubmed]
  34. Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes. Shefer, S., Salen, G., Batta, A.K., Honda, A., Tint, G.S., Irons, M., Elias, E.R., Chen, T.C., Holick, M.F. J. Clin. Invest. (1995) [Pubmed]
  35. FGF5 as a regulator of the hair growth cycle: evidence from targeted and spontaneous mutations. Hébert, J.M., Rosenquist, T., Götz, J., Martin, G.R. Cell (1994) [Pubmed]
  36. STAT3 signalling is required for leptin regulation of energy balance but not reproduction. Bates, S.H., Stearns, W.H., Dundon, T.A., Schubert, M., Tso, A.W., Wang, Y., Banks, A.S., Lavery, H.J., Haq, A.K., Maratos-Flier, E., Neel, B.G., Schwartz, M.W., Myers, M.G. Nature (2003) [Pubmed]
  37. Extension of life-span by loss of CHICO, a Drosophila insulin receptor substrate protein. Clancy, D.J., Gems, D., Harshman, L.G., Oldham, S., Stocker, H., Hafen, E., Leevers, S.J., Partridge, L. Science (2001) [Pubmed]
  38. Rescue of mice homozygous for lethal albino deletions: implications for an animal model for the human liver disease tyrosinemia type 1. Kelsey, G., Ruppert, S., Beermann, F., Grund, C., Tanguay, R.M., Schütz, G. Genes Dev. (1993) [Pubmed]
  39. The murine winged helix transcription factors, Foxc1 and Foxc2, are both required for cardiovascular development and somitogenesis. Kume, T., Jiang, H., Topczewska, J.M., Hogan, B.L. Genes Dev. (2001) [Pubmed]
  40. Clock mutation lengthens the circadian period without damping rhythms in individual SCN neurons. Nakamura, W., Honma, S., Shirakawa, T., Honma, K. Nat. Neurosci. (2002) [Pubmed]
  41. Association between polymorphism in gene for microsomal epoxide hydrolase and susceptibility to emphysema. Smith, C.A., Harrison, D.J. Lancet (1997) [Pubmed]
  42. cDNA and protein sequence of polymorphic macaque albumins that differ in bilirubin binding. Watkins, S., Sakamoto, Y., Madison, J., Davis, E., Smith, D.G., Dwulet, J., Putnam, F.W. Proc. Natl. Acad. Sci. U.S.A. (1993) [Pubmed]
  43. Localization of urinary lactosylceramide in cytoplasmic vesicles of renal tubular cells in homozygous familial hypercholesterolemia. Chatterjee, S., Kwiterovich, P.O., Gupta, P., Erozan, Y.S., Alving, C.R., Richards, R.L. Proc. Natl. Acad. Sci. U.S.A. (1983) [Pubmed]
  44. HLA typing in idiopathic hemochromatosis: distinction between homozygotes and heterozygotes with biochemical expression. Bassett, M.L., Halliday, J.W., Powell, L.W. Hepatology (1981) [Pubmed]
WikiGenes - Universities