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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
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Disease relevance of Heterozygote


Psychiatry related information on Heterozygote


High impact information on Heterozygote

  • Interbreeding of heterozygotes resulted in progressive telomere shortening, indicating that limiting telomerase compromises telomere maintenance [11].
  • We identified six mutations in SLC6A19 that cosegregated with disease in the predicted recessive manner, with most affected individuals being compound heterozygotes [12].
  • Thus, with respect to choice, mutation of Tsix yields a phenotypic abnormality in heterozygotes but not homozygotes [13].
  • Analysis of the human homolog of mutY, MYH, showed that the siblings were compound heterozygotes for the nonconservative missense variants Tyr165Cys and Gly382Asp [14].
  • An associated haplotype spanning LCT, as well as a distinct difference in the transcript levels of 'non-persistence' and 'persistence' alleles in heterozygotes, suggest that a cis-acting element contributes to the lactase non-persistence phenotype [15].

Chemical compound and disease context of Heterozygote


Biological context of Heterozygote


Anatomical context of Heterozygote

  • Cysteamine caused a decline in leukocyte cystine levels to the range seen in clinically unaffected heterozygotes; both plasma and urinary cystine diminished by more than half [26].
  • To know whether IGF2, the human homologue, is also imprinted, we used an ApaI polymorphism at the 3' untranslated region in order to distinguish between mRNA derived from each copy of the gene in placentae from heterozygote human fetuses, studied after careful removal of the decidua [27].
  • (Approximately one in seven persons in the United States is a heterozygote.) The subjects consumed a low-cholesterol diet (about 200 mg [0.5 mmol] of cholesterol per day) during a two-week run-in period; daily cholesterol intake was then increased to approximately 1100 mg (2.8 mmol) by the addition of four egg yolks per day [28].
  • Cytological analysis of third instar salivary gland nuclei from Kochi/Confluens heterozygotes suggests that complete pairing is not essential for Sgs-4K enhancement [29].
  • In addition, sg heterozygotes show accelerated dendritic atrophy and cell loss, suggesting that sg has a role in mature Purkinje cells [30].

Associations of Heterozygote with chemical compounds


Gene context of Heterozygote


Analytical, diagnostic and therapeutic context of Heterozygote


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  2. H2AX haploinsufficiency modifies genomic stability and tumor susceptibility. Celeste, A., Difilippantonio, S., Difilippantonio, M.J., Fernandez-Capetillo, O., Pilch, D.R., Sedelnikova, O.A., Eckhaus, M., Ried, T., Bonner, W.M., Nussenzweig, A. Cell (2003) [Pubmed]
  3. p53 modulation of TFIIH-associated nucleotide excision repair activity. Wang, X.W., Yeh, H., Schaeffer, L., Roy, R., Moncollin, V., Egly, J.M., Wang, Z., Freidberg, E.C., Evans, M.K., Taffe, B.G. Nat. Genet. (1995) [Pubmed]
  4. Protection against bronchial asthma by CFTR delta F508 mutation: a heterozygote advantage in cystic fibrosis. Schroeder, S.A., Gaughan, D.M., Swift, M. Nat. Med. (1995) [Pubmed]
  5. Homeosis and intestinal tumours in Cdx2 mutant mice. Chawengsaksophak, K., James, R., Hammond, V.E., Köntgen, F., Beck, F. Nature (1997) [Pubmed]
  6. Apolipoprotein E epsilon4 and the risk of dementia with stroke. A population-based investigation. Slooter, A.J., Tang, M.X., van Duijn, C.M., Stern, Y., Ott, A., Bell, K., Breteler, M.M., Van Broeckhoven, C., Tatemichi, T.K., Tycko, B., Hofman, A., Mayeux, R. JAMA (1997) [Pubmed]
  7. Mental retardation in heterozygotes for the fragile-X mutation: evidence in favor of an X inactivation-dependent effect. Rocchi, M., Archidiacono, N., Rinaldi, A., Filippi, G., Bartolucci, G., Fancello, G.S., Siniscalco, M. Am. J. Hum. Genet. (1990) [Pubmed]
  8. Nociception in cyclooxygenase isozyme-deficient mice. Ballou, L.R., Botting, R.M., Goorha, S., Zhang, J., Vane, J.R. Proc. Natl. Acad. Sci. U.S.A. (2000) [Pubmed]
  9. Phenotype variation in two-locus mouse models of Hirschsprung disease: tissue-specific interaction between Ret and Ednrb. McCallion, A.S., Stames, E., Conlon, R.A., Chakravarti, A. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  10. Differential expression of normal and mutant Huntington's disease gene alleles. Persichetti, F., Carlee, L., Faber, P.W., McNeil, S.M., Ambrose, C.M., Srinidhi, J., Anderson, M., Barnes, G.T., Gusella, J.F., MacDonald, M.E. Neurobiol. Dis. (1996) [Pubmed]
  11. Short telomeres, even in the presence of telomerase, limit tissue renewal capacity. Hao, L.Y., Armanios, M., Strong, M.A., Karim, B., Feldser, D.M., Huso, D., Greider, C.W. Cell (2005) [Pubmed]
  12. Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19. Seow, H.F., Bröer, S., Bröer, A., Bailey, C.G., Potter, S.J., Cavanaugh, J.A., Rasko, J.E. Nat. Genet. (2004) [Pubmed]
  13. Homozygous Tsix mutant mice reveal a sex-ratio distortion and revert to random X-inactivation. Lee, J.T. Nat. Genet. (2002) [Pubmed]
  14. Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors. Al-Tassan, N., Chmiel, N.H., Maynard, J., Fleming, N., Livingston, A.L., Williams, G.T., Hodges, A.K., Davies, D.R., David, S.S., Sampson, J.R., Cheadle, J.P. Nat. Genet. (2002) [Pubmed]
  15. Identification of a variant associated with adult-type hypolactasia. Enattah, N.S., Sahi, T., Savilahti, E., Terwilliger, J.D., Peltonen, L., Järvelä, I. Nat. Genet. (2002) [Pubmed]
  16. Relationship between apolipoprotein(a) phenotype, lipoprotein(a) concentration in plasma, and low density lipoprotein receptor function in a large kindred with familial hypercholesterolemia due to the pro664----leu mutation in the LDL receptor gene. Soutar, A.K., McCarthy, S.N., Seed, M., Knight, B.L. J. Clin. Invest. (1991) [Pubmed]
  17. Apoa5 Q139X truncation predisposes to late-onset hyperchylomicronemia due to lipoprotein lipase impairment. Marçais, C., Verges, B., Charrière, S., Pruneta, V., Merlin, M., Billon, S., Perrot, L., Drai, J., Sassolas, A., Pennacchio, L.A., Fruchart-Najib, J., Fruchart, J.C., Durlach, V., Moulin, P. J. Clin. Invest. (2005) [Pubmed]
  18. Effect of sera from cystic fibrosis homozygotes and heterozygotes on glucose metabolism in Vero cells. Araki, H., Nakamura, K. Lancet (1978) [Pubmed]
  19. Study of hereditary fructose intolerance by use of 31P magnetic resonance spectroscopy. Oberhaensli, R.D., Rajagopalan, B., Taylor, D.J., Radda, G.K., Collins, J.E., Leonard, J.V., Schwarz, H., Herschkowitz, N. Lancet (1987) [Pubmed]
  20. Plasma phenylalanine, tyrosine, and tryptophan in schizophrenia. Potkin, S.G., Cannon-Spoor, H.E., DeLisi, L.E., Neckers, L.M., Wyatt, R.J. Arch. Gen. Psychiatry (1983) [Pubmed]
  21. Complete deficiency of adenine phosphoribosyltransferase. Report of a family. Van Acker, K.J., Simmonds, H.A., Potter, C., Cameron, J.S. N. Engl. J. Med. (1977) [Pubmed]
  22. Clinical and biochemical abnormalities in people heterozygous for hemochromatosis. Bulaj, Z.J., Griffen, L.M., Jorde, L.B., Edwards, C.Q., Kushner, J.P. N. Engl. J. Med. (1996) [Pubmed]
  23. A human compound heterozygote for two MLH1 missense mutations. Hackman, P., Tannergård, P., Osei-Mensa, S., Chen, J., Kane, M.F., Kolodner, R., Lambert, B., Hellgren, D., Lindblom, A. Nat. Genet. (1997) [Pubmed]
  24. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Shiang, R., Thompson, L.M., Zhu, Y.Z., Church, D.M., Fielder, T.J., Bocian, M., Winokur, S.T., Wasmuth, J.J. Cell (1994) [Pubmed]
  25. Recombination suppression of mouse t-haplotypes due to chromatin mismatching. Silver, L.M., Artzt, K. Nature (1981) [Pubmed]
  26. Effects of cysteamine therapy in nephropathic cystinosis. Yudkoff, M., Foreman, J.W., Segal, S. N. Engl. J. Med. (1981) [Pubmed]
  27. Parental genomic imprinting of the human IGF2 gene. Giannoukakis, N., Deal, C., Paquette, J., Goodyer, C.G., Polychronakos, C. Nat. Genet. (1993) [Pubmed]
  28. Attenuated hypercholesterolemic response to a high-cholesterol diet in subjects heterozygous for the apolipoprotein A-IV-2 allele. McCombs, R.J., Marcadis, D.E., Ellis, J., Weinberg, R.B. N. Engl. J. Med. (1994) [Pubmed]
  29. Proximity-dependent enhancement of Sgs-4 gene expression in D. melanogaster. Kornher, J.S., Brutlag, D. Cell (1986) [Pubmed]
  30. Disruption of the nuclear hormone receptor RORalpha in staggerer mice. Hamilton, B.A., Frankel, W.N., Kerrebrock, A.W., Hawkins, T.L., FitzHugh, W., Kusumi, K., Russell, L.B., Mueller, K.L., van Berkel, V., Birren, B.W., Kruglyak, L., Lander, E.S. Nature (1996) [Pubmed]
  31. Heterozygous familial hypercholesterolemia: failure of normal allele to compensate for mutant allele at a regulated genetic locus. Goldstein, J.L., Sobhani, M.K., Faust, J.R., Brown, M.S. Cell (1976) [Pubmed]
  32. Inheritance of apolipoprotein C-II deficiency with hypertriglyceridemia and pancreatitis. Cox, D.W., Breckenridge, W.C., Little, J.A. N. Engl. J. Med. (1978) [Pubmed]
  33. Linkage of the Indiana kindred of Gerstmann-Sträussler-Scheinker disease to the prion protein gene. Dlouhy, S.R., Hsiao, K., Farlow, M.R., Foroud, T., Conneally, P.M., Johnson, P., Prusiner, S.B., Hodes, M.E., Ghetti, B. Nat. Genet. (1992) [Pubmed]
  34. Pseudodominant transmission of fructose intolerance in an adult and three offspring: Heterozygote detection by intestinal biopsy. Cox, T.M., Camilleri, M., O'Donnell, M.W., Chadwick, V.S. N. Engl. J. Med. (1982) [Pubmed]
  35. Increased high-density lipoprotein levels caused by a common cholesteryl-ester transfer protein gene mutation. Inazu, A., Brown, M.L., Hesler, C.B., Agellon, L.B., Koizumi, J., Takata, K., Maruhama, Y., Mabuchi, H., Tall, A.R. N. Engl. J. Med. (1990) [Pubmed]
  36. Late onset of renal and hepatic cysts in Pkd1-targeted heterozygotes. Lu, W., Fan, X., Basora, N., Babakhanlou, H., Law, T., Rifai, N., Harris, P.C., Perez-Atayde, A.R., Rennke, H.G., Zhou, J. Nat. Genet. (1999) [Pubmed]
  37. Salmonella typhi uses CFTR to enter intestinal epithelial cells. Pier, G.B., Grout, M., Zaidi, T., Meluleni, G., Mueschenborn, S.S., Banting, G., Ratcliff, R., Evans, M.J., Colledge, W.H. Nature (1998) [Pubmed]
  38. Mice deficient in the Rac activator Tiam1 are resistant to Ras-induced skin tumours. Malliri, A., van der Kammen, R.A., Clark, K., van der Valk, M., Michiels, F., Collard, J.G. Nature (2002) [Pubmed]
  39. The tumor suppressors Ink4c and p53 collaborate independently with Patched to suppress medulloblastoma formation. Uziel, T., Zindy, F., Xie, S., Lee, Y., Forget, A., Magdaleno, S., Rehg, J.E., Calabrese, C., Solecki, D., Eberhart, C.G., Sherr, S.E., Plimmer, S., Clifford, S.C., Hatten, M.E., McKinnon, P.J., Gilbertson, R.J., Curran, T., Sherr, C.J., Roussel, M.F. Genes Dev. (2005) [Pubmed]
  40. Evidence that men with familial hypercholesterolemia can avoid early coronary death. An analysis of 77 gene carriers in four Utah pedigrees. Williams, R.R., Hasstedt, S.J., Wilson, D.E., Ash, K.O., Yanowitz, F.F., Reiber, G.E., Kuida, H. JAMA (1986) [Pubmed]
  41. Mercaptopurine therapy intolerance and heterozygosity at the thiopurine S-methyltransferase gene locus. Relling, M.V., Hancock, M.L., Rivera, G.K., Sandlund, J.T., Ribeiro, R.C., Krynetski, E.Y., Pui, C.H., Evans, W.E. J. Natl. Cancer Inst. (1999) [Pubmed]
  42. Linkage of DNA markers to cystic fibrosis in 26 families. Spence, J.E., Rosenbloom, C.L., O'Brien, W.E., Seilheimer, D.K., Cole, S., Ferrell, R.E., Stern, R.C., Beaudet, A.L. Am. J. Hum. Genet. (1986) [Pubmed]
  43. Occurrence of a Tyr393----Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population. Fisher, C.R., Fisher, C.W., Chuang, D.T., Cox, R.P. Am. J. Hum. Genet. (1991) [Pubmed]
  44. Treatment of familial hypercholesterolemia by portacaval anastomosis: effect on cholesterol metabolism and pool sizes. McNamara, D.J., Ahrens, E.H., Kolb, R., Brown, C.D., Parker, T.S., Davidson, N.O., Samuel, P., McVie, R.M. Proc. Natl. Acad. Sci. U.S.A. (1983) [Pubmed]
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