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

Gene Pool

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Disease relevance of Gene Pool

  • The different patterns of genetic organization of the psbAD region are consistent with the idea that the psbA and psbD genes were acquired more than once by cyanomyoviruses and that their horizontal transfer between phages via a common phage gene pool, as part of mobile genetic modules, may be a continuing process [1].
  • A global gene pool for high-level cephalosporin resistance in commensal Streptococcus species and Streptococcus pneumoniae [2].
  • These findings demonstrate the diversity of the influenza virus gene pool in Canadian ducks, and suggest that genes which cluster in specific phylogenetic groupings in the PB2 and PA genes can be used for markers of viruses with the potential for crossing the species barrier [3].
  • This is consistent with the hypothesis that the AU-1 allele of the VP4 gene has been maintained in both human and feline rotavirus gene pools [4].

High impact information on Gene Pool

  • The size of the gene pool potentially encoding antibodies to p-azophenyl arsonate has been examined [5].
  • Although the autoimmune regulator (Aire) is responsible for inducing a large portion of this gene pool, numerous tissue-restricted genes are also up-regulated in mature mTECs in the absence of Aire [6].
  • The remarkable diversity of this gene pool implies a complex mode of regulation, which cannot be solely explained by the action of a single factor, such as the transcriptional autoimmune regulator AIRE [7].
  • The phylogeography of the primal mtDNA and Y-chromosome founders suggests that these southern Asian Pleistocene coastal settlers from Africa would have provided the inocula for the subsequent differentiation of the distinctive eastern and western Eurasian gene pools [8].
  • These results suggest that major histocompatibility complex restriction cannot be explained by the differential usage of nonoverlapping V alpha or V beta gene pools [9].

Biological context of Gene Pool

  • This pairing anomaly may contribute to altered class II phenotypes in heterozygous individuals, and is reflected in the absence of either DQ1 alpha, DQ2 beta or DQ1 alpha, DQ3 beta haplotypes in the known human gene pool [10].
  • In contrast to the predominance of west African mitochondrial DNA haplotypes in their maternal gene pool, the major west African Y-chromosome lineage E3a was observed only at a frequency of 15.9% [11].
  • There is a trend to consider the gene pool of the Basques as a 'living fossil' of the earliest modern humans that colonized Europe. To investigate this assumption, we have typed 45 binary markers and five short tandem repeat loci of the Y chromosome in a set of 168 male Basques [12].
  • All three of these R plasmids possess a guanine-plus-cytosine content of 0.40 to 0.41 mol fraction and are present as multicopy gene pools in their bacterial hosts [13].
  • This agrees with findings obtained testing other genetic systems (ACP, AK, ESD, G6PD, GLO, PGM, PGD, ALB, CP, HP, TF), but the HLA-typing results indicate that the original gene pool has been diluted due to gene flow from the surrounding Mestizo population [14].

Anatomical context of Gene Pool

  • Beta1,4-galactosyltransferase and lactose biosynthesis: recruitment of a housekeeping gene from the nonmammalian vertebrate gene pool for a mammary gland specific function [15].

Associations of Gene Pool with chemical compounds

  • Platelet membrane glycoprotein IIIa (GPIIIa) is the most polymorphic integrin subunit in man, with at least seven recognized allelic isoforms present in the human gene pool [16].
  • Catabolism of quinate and skikimate is initiated by NAD(+)-dependent dehydrogenases in other microorganisms, so it is evident that different gene pools were called upon to provide the ancestral enzyme for this metabolic step [17].
  • Culture-dependent and culture-independent approaches were used to determine the relationship between the dehalogenase gene pool in bacteria enriched and isolated on 2,2-dichloropropionic acid (22DCPA) and the environmental metagene pool (the collective gene pool of both the culturable and uncultured microbes) from which they were isolated [18].
  • This indicates that significant maternally mediated introgression of Atlantic mtDNA genomes into the A-C-F gene pool has not occurred [19].
  • These observations suggest that under mefloquine pressure a resistant parasite population was selected in the patient, indicating that the potential for mefloquine resistance already exists in the indigenous P. falciparum gene pool [20].

Gene context of Gene Pool

  • Although a common gene pool seems to exist among staphylococci, exchange of blaZ between strains and species is judged to be an extremely rare event [21].
  • A significant age-related variation of the APOA1 gene pool was observed in males [22].
  • Therefore, there are at least four forms of the centromere-distal EcoRI fragment of the LEU2 locus in the Saccharomyces cerevisiae gene pool; these are 7.1 kb, 1.9 kb, 1.48 kb and 1.15 kb long [23].
  • SUC2 was isolated by transformation of a suc0 strain with a gene pool and complementation to sucrose fermentation [24].
  • The epsilon3-allele accounts for the majority of the ApoE gene pool (approximately 70-80%), the epsilon4-allele accounts for 10-15% and the epsilon2 allele for 5-10% [25].


  1. Genetic organization of the psbAD region in phages infecting marine Synechococcus strains. Millard, A., Clokie, M.R., Shub, D.A., Mann, N.H. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  2. A global gene pool for high-level cephalosporin resistance in commensal Streptococcus species and Streptococcus pneumoniae. Reichmann, P., König, A., Liñares, J., Alcaide, F., Tenover, F.C., McDougal, L., Swidsinski, S., Hakenbeck, R. J. Infect. Dis. (1997) [Pubmed]
  3. Influenza A viruses in feral Canadian ducks: extensive reassortment in nature. Hatchette, T.F., Walker, D., Johnson, C., Baker, A., Pryor, S.P., Webster, R.G. J. Gen. Virol. (2004) [Pubmed]
  4. Nucleotide sequence comparison of the VP8* gene of rotaviruses possessing the AU-1 gene 4 allele. Nakagomi, O., Isegawa, Y., Ueda, S., Gerna, G., Sarasini, A., Kaga, E., Nakagomi, T., Flores, J. J. Gen. Virol. (1993) [Pubmed]
  5. Somatic mutation in genes for the variable portion of the immunoglobulin heavy chain. Sims, J., Rabbitts, T.H., Estess, P., Slaughter, C., Tucker, P.W., Capra, J.D. Science (1982) [Pubmed]
  6. Promiscuous gene expression in thymic epithelial cells is regulated at multiple levels. Derbinski, J., Gäbler, J., Brors, B., Tierling, S., Jonnakuty, S., Hergenhahn, M., Peltonen, L., Walter, J., Kyewski, B. J. Exp. Med. (2005) [Pubmed]
  7. Regulating self-tolerance by deregulating gene expression. Gotter, J., Kyewski, B. Curr. Opin. Immunol. (2004) [Pubmed]
  8. The genetic heritage of the earliest settlers persists both in Indian tribal and caste populations. Kivisild, T., Rootsi, S., Metspalu, M., Mastana, S., Kaldma, K., Parik, J., Metspalu, E., Adojaan, M., Tolk, H.V., Stepanov, V., Gölge, M., Usanga, E., Papiha, S.S., Cinnioğlu, C., King, R., Cavalli-Sforza, L., Underhill, P.A., Villems, R. Am. J. Hum. Genet. (2003) [Pubmed]
  9. T-cell receptor variable region gene usage in T-cell populations. Garman, R.D., Ko, J.L., Vulpe, C.D., Raulet, D.H. Proc. Natl. Acad. Sci. U.S.A. (1986) [Pubmed]
  10. A genetically controlled pairing anomaly between HLA-DQ alpha and HLA-DQ beta chains. Kwok, W.W., Thurtle, P., Nepom, G.T. J. Immunol. (1989) [Pubmed]
  11. Y-chromosome lineages in Cabo Verde Islands witness the diverse geographic origin of its first male settlers. Gonçalves, R., Rosa, A., Freitas, A., Fernandes, A., Kivisild, T., Villems, R., Brehm, A. Hum. Genet. (2003) [Pubmed]
  12. The place of the Basques in the European Y-chromosome diversity landscape. Alonso, S., Flores, C., Cabrera, V., Alonso, A., Martín, P., Albarrán, C., Izagirre, N., de la Rúa, C., García, O. Eur. J. Hum. Genet. (2005) [Pubmed]
  13. Molecular characterization of two beta-lactamase-specifying plasmids isolated from Neisseria gonorrhoeae. Roberts, M., Elwell, L.P., Falkow, S. J. Bacteriol. (1977) [Pubmed]
  14. Colonia Tovar: the history of a semi-isolated Venezuelan population of German ancestry described by HLA class I genes. Gendzekhadze, K., Montagnani, S., Ogando, V., Balbas, O., Mendez-Castellano, H., Layrisse, Z. Tissue Antigens (2003) [Pubmed]
  15. Beta1,4-galactosyltransferase and lactose biosynthesis: recruitment of a housekeeping gene from the nonmammalian vertebrate gene pool for a mammary gland specific function. Shaper, N.L., Charron, M., Lo, N.W., Shaper, J.H. Journal of mammary gland biology and neoplasia. (1998) [Pubmed]
  16. Adhesive and signaling properties of a naturally occurring allele of glycoprotein IIIa with an amino acid substitution within the ligand binding domain-the Pena/Penb platelet alloantigenic epitopes. Wang, R., Newman, P.J. Blood (1998) [Pubmed]
  17. The pca-pob supraoperonic cluster of Acinetobacter calcoaceticus contains quiA, the structural gene for quinate-shikimate dehydrogenase. Elsemore, D.A., Ornston, L.N. J. Bacteriol. (1994) [Pubmed]
  18. Comparing the dehalogenase gene pool in cultivated alpha-halocarboxylic acid-degrading bacteria with the environmental metagene pool. Marchesi, J.R., Weightman, A.J. Appl. Environ. Microbiol. (2003) [Pubmed]
  19. An evaluation of introgression of Atlantic coast striped bass mitochondrial DNA in a Gulf of Mexico population using formalin-preserved museum collections. Wirgin, I., Maceda, L., Stabile, J., Mesing, C. Mol. Ecol. (1997) [Pubmed]
  20. Cloning and characterization of mefloquine-resistant Plasmodium falciparum from Thailand. Webster, H.K., Thaithong, S., Pavanand, K., Yongvanitchit, K., Pinswasdi, C., Boudreau, E.F. Am. J. Trop. Med. Hyg. (1985) [Pubmed]
  21. Diversity and evolution of blaZ from Staphylococcus aureus and coagulase-negative staphylococci. Olsen, J.E., Christensen, H., Aarestrup, F.M. J. Antimicrob. Chemother. (2006) [Pubmed]
  22. The study of APOA1, APOC3 and APOA4 variability in healthy ageing people reveals another paradox in the oldest old subjects. Garasto, S., Rose, G., Derango, F., Berardelli, M., Corsonello, A., Feraco, E., Mari, V., Maletta, R., Bruni, A., Franceschi, C., Carotenuto, L., De Benedictis, G. Ann. Hum. Genet. (2003) [Pubmed]
  23. Sequence variation in the LEU2 region of the saccharomyces cerevisiae genome. Dobson, M.J., Kingsman, S.M., Kingsman, A.J. Gene (1981) [Pubmed]
  24. Cloning and expression on a multicopy vector of five invertase genes of Saccharomyces cerevisiae. Hohmann, S., Zimmermann, F.K. Curr. Genet. (1986) [Pubmed]
  25. Apolipoprotein E as a target for developing new therapeutics for Alzheimer's disease based on studies from protein, RNA, and regulatory region of the gene. Lahiri, D.K. J. Mol. Neurosci. (2004) [Pubmed]
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