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


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Disease relevance of Mosaicism


Psychiatry related information on Mosaicism


High impact information on Mosaicism


Chemical compound and disease context of Mosaicism


Biological context of Mosaicism


Anatomical context of Mosaicism


Associations of Mosaicism with chemical compounds


Gene context of Mosaicism

  • To examine this question, we generated mice with variable cellular mosaicism for null Insr alleles [32].
  • High rate of mosaicism in tuberous sclerosis complex [33].
  • Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation [34].
  • In two familial cases and one sporadic case, mosaicism for UBE3A mutations was detected: in the mother of three AS sons, in the maternal grandfather of two AS first cousins, and in the mother of an AS daughter [35].
  • Here we describe somatic mosaicism due to multiple second-site mutations in a patient with RAG1 deficiency [36].

Analytical, diagnostic and therapeutic context of Mosaicism


  1. Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion. Jonkman, M.F., Scheffer, H., Stulp, R., Pas, H.H., Nijenhuis, M., Heeres, K., Owaribe, K., Pulkkinen, L., Uitto, J. Cell (1997) [Pubmed]
  2. Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency. Puck, J.M., Pepper, A.E., Bédard, P.M., Laframboise, R. J. Clin. Invest. (1995) [Pubmed]
  3. Evidence by cellular mosaicism for monoclonal metastasis of spontaneous mouse mammary tumors. Ootsuyama, A., Tanaka, K., Tanooka, H. J. Natl. Cancer Inst. (1987) [Pubmed]
  4. Feline glucose-6-phosphate dehydrogenase cellular mosaicism. Application to the study of retrovirus-induced pure red cell aplasia. Abkowitz, J.L., Ott, R.L., Nakamura, J.M., Steinmann, L., Fialkow, P.J., Adamson, J.W. J. Clin. Invest. (1985) [Pubmed]
  5. Evidence for the involvement of B lymphoid cells in polycythemia vera and essential thrombocythemia. Raskind, W.H., Jacobson, R., Murphy, S., Adamson, J.W., Fialkow, P.J. J. Clin. Invest. (1985) [Pubmed]
  6. Siblings with chromosome mosaicism, microcephaly, and growth retardation: the phenotypic expression of a human mitotic mutant? Tolmie, J.L., Boyd, E., Batstone, P., Ferguson-Smith, M.E., al Roomi, L., Connor, J.M. Hum. Genet. (1988) [Pubmed]
  7. Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy. Topçu, M., Akyerli, C., Sayi, A., Törüner, G.A., Koçoğlu, S.R., Cimbiş, M., Ozçelik, T. Eur. J. Hum. Genet. (2002) [Pubmed]
  8. Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B. Hanks, S., Coleman, K., Reid, S., Plaja, A., Firth, H., Fitzpatrick, D., Kidd, A., Méhes, K., Nash, R., Robin, N., Shannon, N., Tolmie, J., Swansbury, J., Irrthum, A., Douglas, J., Rahman, N. Nat. Genet. (2004) [Pubmed]
  9. Mosaicism in tuberous sclerosis as a potential cause of the failure of molecular diagnosis. Kwiatkowska, J., Wigowska-Sowinska, J., Napierala, D., Slomski, R., Kwiatkowski, D.J. N. Engl. J. Med. (1999) [Pubmed]
  10. Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice. Gourdon, G., Radvanyi, F., Lia, A.S., Duros, C., Blanche, M., Abitbol, M., Junien, C., Hofmann-Radvanyi, H. Nat. Genet. (1997) [Pubmed]
  11. Genetic and clinical mosaicism in a type of epidermal nevus. Paller, A.S., Syder, A.J., Chan, Y.M., Yu, Q.C., Hutton, E., Tadini, G., Fuchs, E. N. Engl. J. Med. (1994) [Pubmed]
  12. Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm. Telenius, H., Kremer, B., Goldberg, Y.P., Theilmann, J., Andrew, S.E., Zeisler, J., Adam, S., Greenberg, C., Ives, E.J., Clarke, L.A. Nat. Genet. (1994) [Pubmed]
  13. Prenatal diagnosis of hemophilia involving grandpaternal mosaicism. Lebo, R.V., Koerper, M.A., Kim, J.H., Chueh, J., Golbus, M.S. Am. J. Med. Genet. (1993) [Pubmed]
  14. Risk analyses for the cognitive phenotype in Turner's syndrome: evidence of familial influence as a decisive factor. Haverkamp, F., Zerres, K., Rietz, C., Noeker, M., Ruenger, M. J. Child Neurol. (2004) [Pubmed]
  15. Transferrin protein variant mimicking carbohydrate-deficient glycoprotein syndrome in trisomy 7 mosaicism. Knopf, C., Rod, R., Jaeken, J., Berant, M., Van Schaftingen, E., Fryns, J.P., Brill-Zamir, R., Gershoni-Baruch, R., Lischinsky, S., Mandel, H. J. Inherit. Metab. Dis. (2000) [Pubmed]
  16. Double aneuploidy with Down's-Klinefelter's syndrome. Hou, J.W., Wang, T.R. J. Formos. Med. Assoc. (1996) [Pubmed]
  17. Increased frequency of heterozygotes for alpha1 antitrypsin variants in individuals with either sex chromosome mosaicism or trisomy 21. Fineman, R.M., Kidd, K.K., Johnson, A.M., Breg, W.R. Nature (1976) [Pubmed]
  18. Detection of Y chromosome sequences in Turner's syndrome by Southern blot analysis of amplified DNA. Kocova, M., Siegel, S.F., Wenger, S.L., Lee, P.A., Trucco, M. Lancet (1993) [Pubmed]
  19. A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents. Raas-Rothschild, A., Wanders, R.J., Mooijer, P.A., Gootjes, J., Waterham, H.R., Gutman, A., Suzuki, Y., Shimozawa, N., Kondo, N., Eshel, G., Espeel, M., Roels, F., Korman, S.H. Am. J. Hum. Genet. (2002) [Pubmed]
  20. Tissue-specific somatic mosaicism in spinal and bulbar muscular atrophy is dependent on CAG-repeat length and androgen receptor--gene expression level. Tanaka, F., Reeves, M.F., Ito, Y., Matsumoto, M., Li, M., Miwa, S., Inukai, A., Yamamoto, M., Doyu, M., Yoshida, M., Hashizume, Y., Terao, S., Mitsuma, T., Sobue, G. Am. J. Hum. Genet. (1999) [Pubmed]
  21. Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene. Satre, V., Monnier, N., Berthoin, F., Ayuso, C., Joannard, A., Jouk, P.S., Lopez-Pajares, I., Megabarne, A., Philippe, H.J., Plauchu, H., Torres, M.L., Lunardi, J. Am. J. Hum. Genet. (1999) [Pubmed]
  22. Somatic mosaicism in Fanconi anemia: evidence of genotypic reversion in lymphohematopoietic stem cells. Gregory, J.J., Wagner, J.E., Verlander, P.C., Levran, O., Batish, S.D., Eide, C.R., Steffenhagen, A., Hirsch, B., Auerbach, A.D. Proc. Natl. Acad. Sci. U.S.A. (2001) [Pubmed]
  23. Multiple patients with revertant mosaicism in a single Wiskott-Aldrich syndrome family. Wada, T., Schurman, S.H., Jagadeesh, G.J., Garabedian, E.K., Nelson, D.L., Candotti, F. Blood (2004) [Pubmed]
  24. Origin of mutations in two families with X-linked chronic granulomatous disease. Francke, U., Ochs, H.D., Darras, B.T., Swaroop, A. Blood (1990) [Pubmed]
  25. Deficient expression of Bruton's tyrosine kinase in monocytes from X-linked agammaglobulinemia as evaluated by a flow cytometric analysis and its clinical application to carrier detection. Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S., Kunikata, T., Arai, S., Kurimoto, M., Niida, Y., Matsuoka, H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O., Yoshizaki, K., Kishimoto, T. Blood (1998) [Pubmed]
  26. Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and Machado-Joseph disease. Lopes-Cendes, I., Maciel, P., Kish, S., Gaspar, C., Robitaille, Y., Clark, H.B., Koeppen, A.H., Nance, M., Schut, L., Silveira, I., Coutinho, P., Sequeiros, J., Rouleau, G.A. Ann. Neurol. (1996) [Pubmed]
  27. Genetic mosaicism: what Gregor Mendel didn't know. Hirschhorn, R. J. Clin. Invest. (1995) [Pubmed]
  28. Post-zygotic mutations and somatic mosaicism in androgen insensitivity syndrome. Holterhus, P.M., Brüggenwirth, H.T., Brinkmann, A.O., Hiort, O. Trends Genet. (2001) [Pubmed]
  29. A case of ataxia telangiectasia with unbalanced glucose 6-phosphate dehydrogenase mosaicism in the granulocytic/monocytic lineages. Ferraris, A.M., Melani, C., Canepa, L., Meloni, T., Forteleoni, G., Gaetani, G.F. Am. J. Hum. Genet. (1987) [Pubmed]
  30. Androgen insensitivity syndrome: somatic mosaicism of the androgen receptor in seven families and consequences for sex assignment and genetic counseling. Köhler, B., Lumbroso, S., Leger, J., Audran, F., Grau, E.S., Kurtz, F., Pinto, G., Salerno, M., Semitcheva, T., Czernichow, P., Sultan, C. J. Clin. Endocrinol. Metab. (2005) [Pubmed]
  31. Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel. Gloyn, A.L., Cummings, E.A., Edghill, E.L., Harries, L.W., Scott, R., Costa, T., Temple, I.K., Hattersley, A.T., Ellard, S. J. Clin. Endocrinol. Metab. (2004) [Pubmed]
  32. Mosaic analysis of insulin receptor function. Kitamura, T., Kitamura, Y., Nakae, J., Giordano, A., Cinti, S., Kahn, C.R., Efstratiadis, A., Accili, D. J. Clin. Invest. (2004) [Pubmed]
  33. High rate of mosaicism in tuberous sclerosis complex. Verhoef, S., Bakker, L., Tempelaars, A.M., Hesseling-Janssen, A.L., Mazurczak, T., Jozwiak, S., Fois, A., Bartalini, G., Zonnenberg, B.A., van Essen, A.J., Lindhout, D., Halley, D.J., van den Ouweland, A.M. Am. J. Hum. Genet. (1999) [Pubmed]
  34. Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation. Collod-Béroud, G., Lackmy-Port-Lys, M., Jondeau, G., Mathieu, M., Maingourd, Y., Coulon, M., Guillotel, M., Junien, C., Boileau, C. Am. J. Hum. Genet. (1999) [Pubmed]
  35. Mutation analysis of UBE3A in Angelman syndrome patients. Malzac, P., Webber, H., Moncla, A., Graham, J.M., Kukolich, M., Williams, C., Pagon, R.A., Ramsdell, L.A., Kishino, T., Wagstaff, J. Am. J. Hum. Genet. (1998) [Pubmed]
  36. Oligoclonal expansion of T lymphocytes with multiple second-site mutations leads to Omenn syndrome in a patient with RAG1-deficient severe combined immunodeficiency. Wada, T., Toma, T., Okamoto, H., Kasahara, Y., Koizumi, S., Agematsu, K., Kimura, H., Shimada, A., Hayashi, Y., Kato, M., Yachie, A. Blood (2005) [Pubmed]
  37. Nested polymerase chain reaction study of 53 cases with Turner's syndrome: is cytogenetically undetected Y mosaicism common? Binder, G., Koch, A., Wajs, E., Ranke, M.B. J. Clin. Endocrinol. Metab. (1995) [Pubmed]
  38. Genetic and clinical mosaicism in a patient with neurofibromatosis type 1. Vandenbroucke, I., van Doorn, R., Callens, T., Cobben, J.M., Starink, T.M., Messiaen, L. Hum. Genet. (2004) [Pubmed]
  39. Pelvic ultrasonography in patients with Turner syndrome: age-related findings in different karyotypes. Mazzanti, L., Cacciari, E., Bergamaschi, R., Tassinari, D., Magnani, C., Perri, A., Scarano, E., Pluchinotta, V. J. Pediatr. (1997) [Pubmed]
  40. Ictal magnetoencephalographic study in a patient with ring 20 syndrome. Tanaka, N., Kamada, K., Takeuchi, F. J. Neurol. Neurosurg. Psychiatr. (2004) [Pubmed]
  41. Gonadoblastomas in 45,X/46,XY mosaicism: analysis of Y chromosome distribution by fluorescence in situ hybridization. Iezzoni, J.C., Von Kap-Herr, C., Golden, W.L., Gaffey, M.J. Am. J. Clin. Pathol. (1997) [Pubmed]
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