X-inactivation modifies disease severity in female carriers of murine X-linked Alport syndrome

Nephrology Dialysis Transplantation

Volumn 25, Issue 3, 2010, Pages 764-769

  Rheault, Michelle N ^a   Kren, Stefan M ^a   Hartich, Linda A ^b   Wall, Melanie ^c   Thomas, William ^c   Mesa, Hector A ^a,b   Avner, Philip ^d   Lees, George E ^e   Kashtan, Clifford E ^a   Segal, Yoav ^a,b  

^a UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^b VA MEDICAL CENTER   (United States)

^c UNIVERSITY OF MINNESOTA   (United States)

^d INSTITUT PASTEUR   (France)

^e TEXAS A AND M UNIVERSITY   (United States)

Author keywords

Collagen type IV; Disease models, animal; Female; Longevitynephritis, hereditary

Indexed keywords

MESSENGER RNA; PROTEIN; UREA;

ALPORT SYNDROME; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; COL4A5 GENE; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; GENE CONTROL; GENE FREQUENCY; GENE INACTIVATION; GENOTYPE; HETEROZYGOTE; MOUSE; NONHUMAN; OUTCOME ASSESSMENT; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN URINE LEVEL; SEX DIFFERENCE; SURVIVAL; UREA NITROGEN BLOOD LEVEL; X CHROMOSOME LINKED DISORDER;

ANIMALS; BLOOD UREA NITROGEN; COLLAGEN TYPE IV; DISEASE MODELS, ANIMAL; FEMALE; GENOTYPE; HETEROZYGOTE; MALE; MICE; MICE, CONGENIC; MICE, INBRED C57BL; NEPHRITIS, HEREDITARY; PHENOTYPE; PROTEINURIA; SEVERITY OF ILLNESS INDEX; X CHROMOSOME INACTIVATION;

EID: 77649214015     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfp551     Document Type: Article

References (27)

1. Segal Y, Kashtan CE. Genetic abnormalities in glomerular function. In: RJ Alpern, SC Hebert (eds). Seldin and Giebisch's The Kidney: Physiology & Pathophysiology. Boston, MA: Elsevier Inc., Academic Press, 2007
2. Perkoff GT. Familial aspects of diffuse renal diseases. Annu Rev Med 1964; 15: 115-124
3. Jais JP, Knebelmann B, Giatras I, et al. X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study. J Am Soc Nephrol 2003; 14: 2603-2610
4. Gross O, Netzer KO, Lambrecht R, et al. Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling. Nephrol Dial Transplant 2002; 17: 1218-1227
5. Jais JP, Knebelmann B, Giatras I, et al. X-linked Alport syndrome: natural history in 195 families and genotype-phenotype correlations in males. J Am Soc Nephrol 2000; 11: 649-657
6. Migeon BR. Non-random X chromosome inactivation in mammalian cells. Cytogenet Cell Genet 1998; 80: 142-148
7. Guo C, Van Damme B, Vanrenterghem Y, et al. Severe Alport phe-notype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele. J Clin Invest 1995; 95: 1832-1837
8. Vetrie D, Flinter F, Bobrow M, et al. X inactivation patterns in females with Alport's syndrome: a means of selecting against a deleterious gene? J Med Genet 1992; 29: 663-666
9. Nakanishi K, Iijima K, Kuroda N, et al. Comparison of a5(IV) collagen chain expression in skin with disease severity in women with X-linked Alport syndrome. J Am Soc Nephrol 1998; 9: 1433-1440
10. Massella L, Onetti Muda A, Faraggiana T, et al. Epidermal basement membrane a5(IV) expression in females with Alport syndrome and severity of renal disease. Kidney Int 2003; 64: 1787-1791
11. Wang Y, Zhang H, Ding J, et al. Correlation between mRNA expression level of the mutant COL4A5 gene and phenotypes of XLAS females. Exp Biol Med (Maywood) 2007; 232: 638-642
12. Rheault MN, Kren SM, Thielen BK, et al. Mouse model of X-linked Alport syndrome. J Am Soc Nephrol 2004; 15: 1466-1474
13. Cattanach BM, Williams CE. Evidence of non-random X chromosome activity in the mouse. Genet Res 1972; 19: 229-240
14. Johnston PG, Cattanach BM. Controlling elements in the mouse. IV. Evidence of non-random X-inactivation. Genet Res 1981; 37: 151-160
15. Courtier B, Heard E, Avner P. Xce haplotypes show modified meth-ylation in a region of the active X chromosome lying 3' to Xist. Proc Natl Acad Sci USA 1995; 92: 3531-3535
16. -ΔΔCT method. Methods 2001; 25: 402-408
17. Diggle P. Analysis of Longitudinal Data. New York, NY: Oxford University Press, 2002
18. Team, RDC. R: A Language and Environment for Statistical Computing Vienna, Austria, 2008
19. Grunfeld JP, Noel LH, Hafez S, et al. Renal prognosis in women with hereditary nephritis. Clin Nephrol 1985; 23: 267-271
20. Disteche CM, Filippova GN, Tsuchiya KD. Escape from X inactiva-tion. Cytogenet Genome Res 2002; 99: 36-43
21. Bolduc V, Chagnon P, Provost S, et al. No evidence that skewing of X chromosome inactivation patterns is transmitted to offspring in humans. J Clin Invest 2008; 118: 333-341
22. Baumal R, Thorner P, Valli VE, et al. Renal disease in carrier female dogs with X-linked hereditary nephritis. Implications for female patients with this disease. Am J Pathol 1991; 139: 751-764
23. Thorner PS, Zheng K, Kalluri R, et al. Coordinate gene expression of the α3, α4 and α5 chains of collagen type IV. Evidence from a canine model of X-linked nephritis with a COL4A5 gene mutation. J Biol Chem 1996; 271: 13821-13828
24. Miner JH, Sanes JR. Molecular and functional defects in kidneys of mice lacking collagen α3(IV): implications for Alport syndrome. J Cell Biol 1996; 135: 1403-1413
25. Kang JS, Wang XP, Miner JH, et al. Loss of α3/α4(IV) collagen from the glomerular basement membrane induces a strain-dependent iso-form switch to α5/α6(IV) collagen associated with longer renal survival in Col4a3-/-Alport mice. J Am Soc Nephrol 2006; 17: 1962-1969
26. Chadwick LH, Pertz LM, Broman KW, et al. Genetic control of X chromosome inactivation in mice: definition of the Xce candidate interval. Genetics 2006; 173: 2103-2110
27. Andrews KL, Mudd JL, Li C, et al. Quantitative trait loci influence renal disease progression in a mouse model of Alport syndrome. Am J Pathol 2002; 160: 721-730