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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 Pedigree


High impact information on Pedigree


Biological context of Pedigree

  • Southern blot analysis with a probe from a separate region of the P. aeruginosa chromosome, a 741-base-pair PstI-NruI DNA fragment adjacent to the exotoxin A gene, also revealed genetic identity among these five clinical isolates [8].
  • In this family, all affected members harbour the same APC germline mutation (5945delA), but display marked phenotypic variability, in particular regarding the occurrence of extracolonic disease that segregates in several branches of the family tree [9].
  • To resolve the genetic identity of NFAR-1 and -2, we carried out sequence analysis of genomic and cDNA NFAR clones and determined that the coding region of this gene spans 16.2 kb and comprises 21 exons [10].
  • Haplotype XV (A3, Cl, D2, Fl, Il) is the main Y-chromosome haplotype in West Europe, with a Basque focus in Southwestern Europe. This study demonstrates that the geographic distribution of Y-chromosome variation for p49a,f TaqI haplotype XV reveals an important genetic identity for populations that live in the Occidental part of Europe [11].
  • Clinical and genetic studies including exploration of his family tree proved that he and his maternal relatives had the disease with the missense mutation, Arg528His (CGC --> CAC) [12].

Anatomical context of Pedigree


Associations of Pedigree with chemical compounds

  • The association between parental history of alcoholism and the nature of alcoholism was assessed using a more reliable measure of family history (Family Tree Questionnaire) and a more comprehensive inventory of alcoholism (Alcohol Use Inventory) than used in earlier studies [14].
  • Juglone, a toxic compound found in all parts of plants of the walnut tree family Jugans, was evaluated as the possible toxin involved in black walnut shaving-associated laminitis in the horse [15].
  • The results establish the genetic identity of LI virus on the Lochindorb Estate. There was a high correlation between the results obtained by RT-PCR and infectivity assays [16].
  • In Japan 1052 FAP patients in 688 family trees have been registered at the National Polyposis Center. In Hamamatsu University School of Medicine, we have been treating 50 patients in 28 family trees [17].
  • MUC5AC is thus the first large, subunit-based, gel-forming respiratory mucin identified and this glycoprotein is biochemically distinct from at least one other population of large, gel-forming mucins also composed of subunits but lacking a genetic identity [18].

Gene context of Pedigree

  • However, three silent polymorphisms in the DNA coding region indicate that Scn1b is close to qv, and is within a region of genetic identity with DBA/2J, the inbred background on which the qvJ allele arose [19].
  • The two new branches that have been added to the CYP1 family tree significantly add to our understanding of P450 evolution [20].
  • The genetic identities of the major mucin (populations I and II) and a minor component (population IV) were not established [21].
  • The two P. aeruginosa strains used in these studies, 388 and 388delta exoS, maintained genetic identity, with the exception that strain 388delta exoS lacked production of the 49-kDa form of ExoS [22].
  • Genetic identity and differential expression of p38.5 (Haymaker) in human malignant and nonmalignant cells [23].


  1. Importance of retinal pigmentation as a subclinical marker in familial adenomatous polyposis. Baba, S., Tsuchiya, M., Watanabe, I., Machida, H. Dis. Colon Rectum (1990) [Pubmed]
  2. Nephropathia epidemica and Puumala virus in Austria. Aberle, S.W., Lehner, P., Ecker, M., Aberle, J.H., Arneitz, K., Khanakah, G., Radda, A., Radda, I., Popow-Kraupp, T., Kunz, C., Heinz, F.X. Eur. J. Clin. Microbiol. Infect. Dis. (1999) [Pubmed]
  3. AIMilano apoprotein identification of the complete kindred and evidence of a dominant genetic transmission. Gualandri, V., Franceschini, G., Sirtori, C.R., Gianfranceschi, G., Orsini, G.B., Cerrone, A., Menotti, A. Am. J. Hum. Genet. (1985) [Pubmed]
  4. Isolation of the yeast INO1 gene: located on an autonomously replicating plasmid, the gene is fully regulated. Klig, L.S., Henry, S.A. Proc. Natl. Acad. Sci. U.S.A. (1984) [Pubmed]
  5. Genetic identity of Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome. Toda, T., Yoshioka, M., Nakahori, Y., Kanazawa, I., Nakamura, Y., Nakagome, Y. Ann. Neurol. (1995) [Pubmed]
  6. Molecular cloning and expression of two novel avian cytochrome P450 1A enzymes induced by 2,3,7,8-tetrachlorodibenzo-p-dioxin. Gilday, D., Gannon, M., Yutzey, K., Bader, D., Rifkind, A.B. J. Biol. Chem. (1996) [Pubmed]
  7. The protein tyrosine kinase family of the human genome. Robinson, D.R., Wu, Y.M., Lin, S.F. Oncogene (2000) [Pubmed]
  8. Serial isolates of Pseudomonas aeruginosa from a cystic fibrosis patient have identical pilin sequences. Pasloske, B.L., Joffe, A.M., Sun, Q., Volpel, K., Paranchych, W., Eftekhar, F., Speert, D.P. Infect. Immun. (1988) [Pubmed]
  9. Exclusion of an extracolonic disease modifier locus on chromosome 1p33-36 in a large Swiss familial adenomatous polyposis kindred. Plasilova, M., Russell, A.M., Wanner, A., Wolf, A., Dobbie, Z., Müller, H.J., Heinimann, K. Eur. J. Hum. Genet. (2004) [Pubmed]
  10. The 90- and 110-kDa human NFAR proteins are translated from two differentially spliced mRNAs encoded on chromosome 19p13. Saunders, L.R., Jurecic, V., Barber, G.N. Genomics (2001) [Pubmed]
  11. Haplotype XV of the Y-chromosome is the main haplotype in West-Europe. Diéterlen, F., Lucotte, G. Biomed. Pharmacother. (2005) [Pubmed]
  12. A family of hypokalemic periodic paralysis with CACNA1S gene mutation showing incomplete penetrance in women. Kawamura, S., Ikeda, Y., Tomita, K., Watanabe, N., Seki, K. Intern. Med. (2004) [Pubmed]
  13. Biochemical and genetic identity of alpha-keto acid reductase and cytoplasmic malate dehydrogenase from human erythrocytes. Friedrich, C.A., Ferrell, R.E., Siciliano, M.J., Kitto, G.B. Ann. Hum. Genet. (1988) [Pubmed]
  14. Alcohol use by alcoholics with and without a history of parental alcoholism. Worobec, T.G., Turner, W.M., O'Farrell, T.J., Cutter, H.S., Bayog, R.D., Tsuang, M.T. Alcohol. Clin. Exp. Res. (1990) [Pubmed]
  15. Induced juglone toxicosis in ponies and horses. True, R.G., Lowe, J.E. Am. J. Vet. Res. (1980) [Pubmed]
  16. Definitive identification of louping ill virus by RT-PCR and sequencing in field populations of Ixodes ricinus on the Lochindorb estate. Gaunt, M.W., Jones, L.D., Laurenson, K., Hudson, P.J., Reid, H.W., Gould, E.A. Arch. Virol. (1997) [Pubmed]
  17. Identification of germ line mutation of APC gene in possible carriers of familial adenomatous polyposis (FAP). Baba, S., Ando, H., Nakamura, Y. Anticancer Res. (1994) [Pubmed]
  18. MUC5AC, but not MUC2, is a prominent mucin in respiratory secretions. Hovenberg, H.W., Davies, J.R., Herrmann, A., Lindén, C.J., Carlstedt, I. Glycoconj. J. (1996) [Pubmed]
  19. Sequence of the voltage-gated sodium channel beta1-subunit in wild-type and in quivering mice. Grosson, C.L., Cannon, S.C., Corey, D.P., Gusella, J.F. Brain Res. Mol. Brain Res. (1996) [Pubmed]
  20. Molecular cloning of CYP1A from the estuarine fish Fundulus heteroclitus and phylogenetic analysis of CYP1 genes: update with new sequences. Morrison, H.G., Weil, E.J., Karchner, S.I., Sogin, M.L., Stegeman, J.J. Comp. Biochem. Physiol. C, Pharmacol. Toxicol. Endocrinol. (1998) [Pubmed]
  21. Respiratory mucins: identification of core proteins and glycoforms. Thornton, D.J., Carlstedt, I., Howard, M., Devine, P.L., Price, M.R., Sheehan, J.K. Biochem. J. (1996) [Pubmed]
  22. Effects of differential expression of the 49-kilodalton exoenzyme S by Pseudomonas aeruginosa on cultured eukaryotic cells. Olson, J.C., McGuffie, E.M., Frank, D.W. Infect. Immun. (1997) [Pubmed]
  23. Genetic identity and differential expression of p38.5 (Haymaker) in human malignant and nonmalignant cells. Das, B., Tao, S.Z., Mushnitsky, R., Norin, A.J. Int. J. Cancer (2001) [Pubmed]
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