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

Founder Effect

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 Founder Effect


Psychiatry related information on Founder Effect


High impact information on Founder Effect

  • A strong founder effect was observed in the Hispano-American population, all families being linked to CCM1 on 7q (refs 4,7) [7].
  • We conclude that PEX7 is responsible for RCDP (PBD CG11) and suggest a founder effect may explain the high frequency of L292ter [8].
  • The same mutation occurs in all the families with the shared BRCA2 haplotype indicating a founder effect [9].
  • CETP deficiency appears to be a frequent cause of increased HDL levels in the population of Japan, possibly because of a founder effect [10].
  • The finding of two common LDL receptor mutations in the Afrikaner FH homozygotes predicts that these mutations will predominate in the Afrikaner population and that the high frequency of FH is due to a founder effect [11].

Chemical compound and disease context of Founder Effect


Biological context of Founder Effect


Associations of Founder Effect with chemical compounds

  • A single haplotype shared by chromosomes bearing the Cys 618 Arg mutation in both families strongly suggests a founder effect for this mutation [19].
  • The leucine at position 41 was stable, although it was encoded by TTG and CTG triplets that fluctuated in abundance partially due to founder effects of clones with nonsilent mutations at codon 215 [20].
  • High prevalence of a novel mutation (2268 insT) of the thyroid peroxidase gene in Taiwanese patients with total iodide organification defect, and evidence for a founder effect [21].
  • Phytosterolemia on the island of Kosrae: founder effect for a novel ABCG8 mutation results in high carrier rate and increased plasma plant sterol levels [22].
  • In summary, on the island of Kosrae, a strong founder effect of a mutant ABCG8 allele results in a large number of carriers with increased plasma plant sterol levels and decreased lathosterol levels [22].

Gene context of Founder Effect

  • These findings have implications for the estimation of the time of origin of BRCA1 mutations having a founder effect, the interpretation of the significance of rare allelic variants, and the study of the origins of modern populations [23].
  • A founder effect in the newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cM [24].
  • In addition, there was no evidence of a PRNP founder effect in the first reported geographical cluster of vCJD [25].
  • A conserved haplotype encompassing the IL12B gene suggested that a founder effect accounted for the recurrence of each mutation [26].
  • Our detection of an EXT1 mutation in one Chamorro subject will allow investigation of a possible founder effect in this population [27].

Analytical, diagnostic and therapeutic context of Founder Effect


  1. A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families. Peelen, T., van Vliet, M., Petrij-Bosch, A., Mieremet, R., Szabo, C., van den Ouweland, A.M., Hogervorst, F., Brohet, R., Ligtenberg, M.J., Teugels, E., van der Luijt, R., van der Hout, A.H., Gille, J.J., Pals, G., Jedema, I., Olmer, R., van Leeuwen, I., Newman, B., Plandsoen, M., van der Est, M., Brink, G., Hageman, S., Arts, P.J., Bakker, M.M., Devilee, P. Am. J. Hum. Genet. (1997) [Pubmed]
  2. Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. Telatar, M., Teraoka, S., Wang, Z., Chun, H.H., Liang, T., Castellvi-Bel, S., Udar, N., Borresen-Dale, A.L., Chessa, L., Bernatowska-Matuszkiewicz, E., Porras, O., Watanabe, M., Junker, A., Concannon, P., Gatti, R.A. Am. J. Hum. Genet. (1998) [Pubmed]
  3. Linkage disequilibrium at the Machado-Joseph disease/spinal cerebellar ataxia 3 locus: evidence for a common founder effect in French and Portuguese-Brazilian families as well as a second ancestral Portuguese-Azorean mutation. Stevanin, G., Cancel, G., Didierjean, O., Dürr, A., Abbas, N., Cassa, E., Feingold, J., Agid, Y., Brice, A. Am. J. Hum. Genet. (1995) [Pubmed]
  4. Mutation of the glucagon receptor gene and diabetes mellitus in the UK: association or founder effect? Gough, S.C., Saker, P.J., Pritchard, L.E., Merriman, T.R., Merriman, M.E., Rowe, B.R., Kumar, S., Aitman, T., Barnett, A.H., Turner, R.C. Hum. Mol. Genet. (1995) [Pubmed]
  5. The high frequency of TTR M30 in familial amyloidotic polyneuropathy is not due to a founder effect. Ii, S., Sommer, S.S. Hum. Mol. Genet. (1993) [Pubmed]
  6. Epidemiological and genetic studies of Huntington's disease in the San-in area of Japan. Nakashima, K., Watanabe, Y., Kusumi, M., Nanba, E., Maeoka, Y., Nakagawa, M., Igo, M., Irie, H., Ishino, H., Fujimoto, A., Goto, J., Takahashi, K. Neuroepidemiology. (1996) [Pubmed]
  7. Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas. Laberge-le Couteulx, S., Jung, H.H., Labauge, P., Houtteville, J.P., Lescoat, C., Cecillon, M., Marechal, E., Joutel, A., Bach, J.F., Tournier-Lasserve, E. Nat. Genet. (1999) [Pubmed]
  8. Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. Braverman, N., Steel, G., Obie, C., Moser, A., Moser, H., Gould, S.J., Valle, D. Nat. Genet. (1997) [Pubmed]
  9. A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes. Thorlacius, S., Olafsdottir, G., Tryggvadottir, L., Neuhausen, S., Jonasson, J.G., Tavtigian, S.V., Tulinius, H., Ogmundsdottir, H.M., Eyfjörd, J.E. Nat. Genet. (1996) [Pubmed]
  10. 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]
  11. Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners. Leitersdorf, E., Van der Westhuyzen, D.R., Coetzee, G.A., Hobbs, H.H. J. Clin. Invest. (1989) [Pubmed]
  12. Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis. Caridi, G., Bertelli, R., Carrea, A., Di Duca, M., Catarsi, P., Artero, M., Carraro, M., Zennaro, C., Candiano, G., Musante, L., Seri, M., Ginevri, F., Perfumo, F., Ghiggeri, G.M. J. Am. Soc. Nephrol. (2001) [Pubmed]
  13. Hereditary disorders among Iranian Jews. Zlotogora, J. Am. J. Med. Genet. (1995) [Pubmed]
  14. Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects. Periquet, M., Lücking, C., Vaughan, J., Bonifati, V., Dürr, A., De Michele, G., Horstink, M., Farrer, M., Illarioshkin, S.N., Pollak, P., Borg, M., Brefel-Courbon, C., Denefle, P., Meco, G., Gasser, T., Breteler, M.M., Wood, N., Agid, Y., Brice, A. Am. J. Hum. Genet. (2001) [Pubmed]
  15. Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families. Elbaz, A., Vale-Santos, J., Jurkat-Rott, K., Lapie, P., Ophoff, R.A., Bady, B., Links, T.P., Piussan, C., Vila, A., Monnier, N. Am. J. Hum. Genet. (1995) [Pubmed]
  16. Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: effect of CAG repeat length on the clinical manifestation. Johansson, J., Forsgren, L., Sandgren, O., Brice, A., Holmgren, G., Holmberg, M. Hum. Mol. Genet. (1998) [Pubmed]
  17. Molecular epidemiology of spinocerebellar ataxia type 6. Craig, K., Keers, S.M., Archibald, K., Curtis, A., Chinnery, P.F. Ann. Neurol. (2004) [Pubmed]
  18. High prevalence of a missense mutation of the glucokinase gene in gestational diabetic patients due to a founder-effect in a local population. Saker, P.J., Hattersley, A.T., Barrow, B., Hammersley, M.S., McLellan, J.A., Lo, Y.M., Olds, R.J., Gillmer, M.D., Holman, R.R., Turner, R.C. Diabetologia (1996) [Pubmed]
  19. Cys 618 Arg mutation in the RET proto-oncogene associated with familial medullary thyroid carcinoma and maternally transmitted Hirschsprung's disease suggesting a role for imprinting. Peretz, H., Luboshitsky, R., Baron, E., Biton, A., Gershoni, R., Usher, S., Grynberg, E., Yakobson, E., Graff, E., Lapidot, M. Hum. Mutat. (1997) [Pubmed]
  20. Broad spectrum of in vivo fitness of human immunodeficiency virus type 1 subpopulations differing at reverse transcriptase codons 41 and 215. Goudsmit, J., de Ronde, A., de Rooij, E., de Boer, R. J. Virol. (1997) [Pubmed]
  21. High prevalence of a novel mutation (2268 insT) of the thyroid peroxidase gene in Taiwanese patients with total iodide organification defect, and evidence for a founder effect. Niu, D.M., Hwang, B., Chu, Y.K., Liao, C.J., Wang, P.L., Lin, C.Y. J. Clin. Endocrinol. Metab. (2002) [Pubmed]
  22. Phytosterolemia on the island of Kosrae: founder effect for a novel ABCG8 mutation results in high carrier rate and increased plasma plant sterol levels. Sehayek, E., Yu, H.J., von Bergmann, K., Lutjohann, D., Stoffel, M., Duncan, E.M., Garcia-Naveda, L., Salit, J., Blundell, M.L., Friedman, J.M., Breslow, J.L. J. Lipid Res. (2004) [Pubmed]
  23. Evidence for effective suppression of recombination in the chromosome 17q21 segment spanning RNU2-BRCA1. Liu, X., Barker, D.F. Am. J. Hum. Genet. (1999) [Pubmed]
  24. A founder effect in the newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cM. Young, T.L., Woods, M.O., Parfrey, P.S., Green, J.S., Hefferton, D., Davidson, W.S. Am. J. Hum. Genet. (1999) [Pubmed]
  25. Sporadic--but not variant--Creutzfeldt-Jakob disease is associated with polymorphisms upstream of PRNP exon 1. Mead, S., Mahal, S.P., Beck, J., Campbell, T., Farrall, M., Fisher, E., Collinge, J. Am. J. Hum. Genet. (2001) [Pubmed]
  26. Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds. Picard, C., Fieschi, C., Altare, F., Al-Jumaah, S., Al-Hajjar, S., Feinberg, J., Dupuis, S., Soudais, C., Al-Mohsen, I.Z., Génin, E., Lammas, D., Kumararatne, D.S., Leclerc, T., Rafii, A., Frayha, H., Murugasu, B., Wah, L.B., Sinniah, R., Loubser, M., Okamoto, E., Al-Ghonaium, A., Tufenkeji, H., Abel, L., Casanova, J.L. Am. J. Hum. Genet. (2002) [Pubmed]
  27. Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses. Raskind, W.H., Conrad, E.U., Matsushita, M., Wijsman, E.M., Wells, D.E., Chapman, N., Sandell, L.J., Wagner, M., Houck, J. Hum. Mutat. (1998) [Pubmed]
  28. Genetic heterogeneity and absence of founder effect in a series of 36 French cerebral cavernous angiomas families. Laberge, S., Labauge, P., Maréchal, E., Maciazek, J., Tournier-Lasserve, E. Eur. J. Hum. Genet. (1999) [Pubmed]
  29. Prenatal diagnosis and the subsequent mutation analysis in a family with carbohydrate-deficient glycoprotein type I syndrome: growing evidence to support founder effects within CDG1 populations. Crosby, A., Jeffery, S., Homfray, T., Taylor, R., Patton, M. Genet. Test. (1999) [Pubmed]
WikiGenes - Universities