Genetic modifiers of polycystic kidney disease in intersubspecific KAT2J mutants

Genomics

Volumn 58, Issue 2, 1999, Pages 129-137

  Upadhya, Poornima ^a   Churchill, Gary ^a   Birkenmeier, Edward H ^a   Barker, Jane E ^a   Frankel, Wayne N ^a  

^a JACKSON LABORATORY   (United States)

Author keywords

Developmental; Fibroblast growth factor receptor; Gene evolution; TACC3; Transforming

Indexed keywords

ANIMAL CELL; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOMAL LOCALIZATION; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC PREDISPOSITION; GENETIC VARIABILITY; HEMATOCRIT; KIDNEY POLYCYSTIC DISEASE; MOUSE; MULTIGENE FAMILY; NONHUMAN; PRIORITY JOURNAL; SOMATIC MUTATION;

EID: 0033153428     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1999.5830     Document Type: Article

References (27)

1. Cheverud J. M., Routman E. J. Epistasis and its contribution to genetic variance components. Genetics. 139:1995;1455-1461.
2. Churchill G. A., Doerge R. W. Empirical threshold values for quantitative trait mapping. Genetics. 138:1994;963-971.
3. Daoust M. C., Reynolds D. M., Bichet D. G., Somlo S. Evidence for a third genetic locus for autosomal dominant polycystic kidney disease. Genomics. 25:1995;733-736.
4. Dietrich W., Katz H., Lincoln S. E., Shin H-S., Friedman J., Dracopoli N. C., Lander E. S. A genetic map of the mouse suitable for typing intraspecific crosses. Genetics. 131:1992;423-447.
5. Doerge R. W., Churchill G. A. Permutation tests for multiple loci affecting a quantitative character. Genetics. 142:1996;285-294.
6. Fry J. L., Koch W. E., Jennette J. C., McFarland E., Fried F. A., Mandell J. A genetically determined murine model of infantile polycystic kidney disease. J. Urol. 134:1985;828-833.
7. Harris P. C. The polycystic kidney disease 1 gene encodes a 14kb transcript and lies within a duplicated region on chromosome 16. Cell. 77:1994;881-894.
8. Hughes J., Ward C. J., Peral B., Aspinwall R., Clark K., Milan J. L. S., Gamble V., Harris P. C. The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nature Genet. 10:1995;151-159.
9. Iakoubova O. A., Duskin H., Beier D. R. Localization of a murine recessive polycystic kidney disease mutation and modifying loci that affect disease severity. Genomics. 26:1995;107-114.
10. Janaswami P. M., Birkenmeier E. H., Cook S. A., Rowe L. B., Bronson R. T., Davisson M. T. Identification and genetic mapping of a new polycystic kidney disease on mouse chromosome 8. Genomics. 40:1997;101-107.
11. Kaysser T. M., Wandersee N. J., Bronson R. T., Barker J. E. Thrombosis and secondary hemochromatosis play major roles in the pathogenesis of jaundiced and spherocytic mice, murine models for hereditary spherocytosis. Blood. 90:1997;4610-4619.
12. Kimberling W. J., Kumar S., Gabow P. A., Kenyon J. B., Connolly C. J., Somlo S. Autosomal dominant polycystic kidney disease: Localization of the second gene to chromosome 4q13-q23. Genomics. 18:1993;467-472.
13. Lander E. S., Botstein D. Mapping Mendelian factors underlying quantitative traits using RFLP linkage maps. Genetics. 121:1989;185-199.
14. Lander E. S., Schork N. J. Genetic dissection of complex traits. Science. 265:1994;2037-2048.
15. Manly K. F. A Macintosh program for storage and analysis of experimental genetic mapping data. Mammal. Genome. 4:1993;303-313.
16. Milutinovic J., Rust P. F., Fialkow P. J., Agodoa L. Y., Phillips L. A., Rudd T. G., Sutherland S. Intrafamilial phenotypic expression of autosomal dominant polycystic kidney disease. Am. J. Kidney Dis. 19:1992;465-472.
17. Mochizuki T., Wu G., Hayashi T., Xenophontos S. L., Veldhuisen B., Saris J. J., Reynolds D. M., Cai Y., Gabow P. A., Pierides A., Kimberling W. J., Breuning M. H., Deltas C. C., Peters D. J., Somlo S. PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science. 272:1996;1339-1342.
18. Peral B., Ong A. C. M., Millan J. L. S., Gamble V., Rees L., Harris P. C. A stable nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1). Hum. Mol. Genet. 5:1996;539-542.
19. Peters D. J. M., Spruit L., Saris J., Ravine D., Sandkuijl L. A., Fossdal R., Boersma J., van Eijk R., Norby S., Constantinou-Deltas C. D., Pierides A., Brissenden J. E., Frants R. R., van Ommen G.-J. B., Breuning M. H. Chromosome 4 localisation of a second gene for autosomal dominant polycystic kidney disease. Nature Genet. 5:1993;359-362.
20. Prins J. B., Todd J. A., Rodrigues N. R., Ghosh S., Hogarth P. M., Wicker L. S., Gaffney E., Podolin P. L., Fischer P. A., Sirotina A. Linkage on chromosome 3 of autoimmune diabetes and defective Fc receptor for IgG in NOD mice. Science. 260:1993;695-698.
21. Qian F., Watnick T. J., Onuchic L. F., Germino G. G. The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type 1. Cell. 87:1996;979-987.
22. Reeders S. T., Breuing M. H., Davies K. E., Nicholls D. R., Jarman A. J., Higgs D. R., Pearson P. L., Weatherall D. J. A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature. 317:1985;542-544.
23. Rise M. L., Frankel W. N., Coffin J. M., Seyfried T. N. Genes for epilepsy mapped in the mouse. Science. 253:1991;669-673.
24. Takahashi H., Calvet J. P., Dittemore-Hoover D., Yoshida K., Grantham J. J., Gattone V. H. II. A hereditary model of slowly progressive polycystic kidney disease in the mouse. J. Am. Soc. Nephrol. 1:1991;980-989.
25. Veis D. J., Sorenson C. M., Shutter J. R., Korsmeyer S. J. Bcl-2-deficient mice demonstrate fulminant lymphoid apoptosis, polycystic kidneys, and hypopigmented hair. Cell. 75:1993;229-240.
26. Woo D. D., Nguyen D. K., Khatibi N., Olsen P. Genetic identification of two major modifier loci of polycystic kidney disease progression in pcy mice. J. Clin. Invest. 100:1997;1934-1940.
27. Zerres K., Mucher G., Bachner L., Deschennes G., Eggerman T., Kaariainen H., Knapp M., Lennert T., Misselwitz J., von Muhlendahl K. E., Neumann H. P. H., Pirson Y., Rudnik-Schoneborn S., Steinbicker V., Wirth B., Scharer K. Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen. Nature Genet. 7:1994;429-432.