Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16

Genomics

Volumn 62, Issue 1, 1999, Pages 1-10

  Le Saux, Olivier ^a   Urban, Zsolt ^a   Göring, Harald H H ^b   Csiszar, Katalin ^a   Pope, F Michael ^c   Richards, Allan ^d   Pasquali Ronchetti, Ivonne ^e   Terry, Sharon ^f   Bercovitch, Lionel ^g   Lebwohl, Mark G ^h   Breuning, Martijn ⁱ   Van Den Berg, Peter ^j   Kornet, Lilian ^k   Ott, Jurg ^l   De Jong, Paulus T V M ^m   Bergen, Arthur A B ^m   Boyd, Charles D ^a  

^a UNIVERSITY OF HAWAII   (United States)

^b Columbia University ^*  (United States)

^c UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^d UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^e UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^f PXE International Inc   (United States)

^g BROWN UNIVERSITY   (United States)

^h MOUNT SINAI SCHOOL OF MEDICINE   (United States)

ⁱ LEIDEN UNIVERSITY   (Netherlands)

^j RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^k MAASTRICHT UNIVERSITY   (Netherlands)

^l ROCKEFELLER UNIVERSITY   (United States)

^m NETHERLANDS INSTITUTE FOR NEUROSCIENCE   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 16P; FEMALE; GENE LOCATION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENETIC LINKAGE; HAPLOTYPE; HUMAN; MALE; PHENOTYPE; PRIORITY JOURNAL; PSEUDOXANTHOMA ELASTICUM; SEQUENCE ANALYSIS;

EID: 0032759541     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1999.5925     Document Type: Article

References (43)

1. Aessopos A., Samarkos M., Voskaridou E., Papaioannou D., Tsironi M., Kavouklis E., Vaiopoulos G., Stamatelos G., Loukopoulos D. Arterial calcification in beta-thalassemia. Angiology. 49:1992;137-143.
2. Becker A., Geiger D., Schäffer A. A. Automatic selection of loop breakers for genetic linkage analysis. Hum. Hered. 48:1998;49-60.
3. Christiano A. M., Lebwohl M. G., Boyd C. D., Uitto J. Workshop on pseudoxanthoma elasticum: Report of a consensus conference. J. Am. Acad. Dermat. 30:1992;103-107.
4. Christiano A. M., Uitto J. Molecular pathology of the elastic fibers. J. Invest. Dermatol. 103:1994;535-575.
5. Deng Z., Liu P., Marlton P., Claxton D. F., Lane S., Callen D. F., Collins F. S., Siciliano M. J. Smooth muscle myosin heavy chain locus (MYH11) maps to 16p13.13-p13.12 and establishes a new region of conserved synteny between human 16p and mouse 16. Genomics. 18:1993;156-159.
6. Eddy D. D., Farber E. M. Pseudoxanthoma elasticum. Internal manifestations: A report of cases and a review of the literature. Arch. Dermatol. 86:1962;729-740.
7. Cell. 77:1994;881-894.
8. Grant D. E., Kurz E. U., Cole S. P. C., Deeley R. G. Analysis of the intron-exon organization of the human multidrug-resistance protein gene (MRP) and alternative splicing of its mRNA. Genomics. 45:1997;368-378.
9. Hoffman C. S., Winston F. A ten-minute DNA preparation from yeast efficiently releases autonomous plasmids for transformation of Escherichia coli. Gene. 57:1987;267-272.
10. Jarvikallio A., Pulkkinen L., Uitto J. Molecular basis of dystrophic epidermolysis bullosa: Mutations in the type VII collagen gene (COL7A1). Hum. Mutat. 10:1997;338-347.
11. Jedlitschky G., Leier I., Buchholz U., Barnouin K., Kurz G., Keppler D. Transport of glutathione, glucuronate, and sulfate conjugates by the MRP gene-encoded conjugate export pump. Cancer Res. 56:1996;988-994.
12. Kool M., van der Linden M., de Haas M., Baas F., Borst P. Expression of human MRP6, a homologue of the multidrug resistance protein gene MRP1, in tissues and cancer cells. Cancer Res. 59:1999;175-182.
13. Kruglyak L., Daly M. J., Reeve-Daly M. P., Lander E. S. Parametric and nonparametric linkage analysis: A unified multipoint approach. Am. J. Hum. Genet. 58:1996;1347-1363.
14. Kruglyak L., Lander E. S. Faster multipoint linkage analysis using Fourier transforms. J. Computat. Biol. 5:1998;1-7.
15. Kuss B. J., Deeley R. G., Cole S. P., Willman C. L., Kopecky K. J., Wolman S. R., Eyre H. J., Lane S. A., Nancarrow J. K., Whitmore S. A., Callen D. F. Deletion of gene for multidrug resistance in acute myeloid leukaemia with inversion in chromosome 16: Prognostic implications. Lancet. 343:1994;1531-1534.
16. Kuss B. J., Deeley R. G., Cole S. D., Willman C. L., Kopecky K. J., Wolman S. R., Eyre H. J., Callen D. F. The biological significance of the multidrug resistance gene MRP in inversion 16 leukemias. Leuk. Lymphoma. 20:1996;357-364.
17. Kuss B. J., O'Neill G. M., Eyre H., Doggett N. A., Callen D. F., Davey R. A. ARA, a novel ABC transporter, is located at 16p13.1, is deleted in inv(16) leukemias, and is shown to be expressed in primitive hematopoietic precursors. Genomics. 51:1998;455-458.
18. Kyte J., Doolittle R. F. A simple method for displaying the hydropathic character of a protein. J. Mol. Biol. 157:1982;105-132.
19. Lathrop G. M., Lalouel J-M., Julier C., Ott J. Strategies for multilocus analysis in humans. Proc. Natl. Acad. Sci. USA. 81:1984;3443-3446.
20. Lebwohl M., Halperin F., Phelps R. G. Brief report: Occult pseudoxanthoma elasticum in patients with premature cardiovascular disease. N. Eng. J. Med. 329:1993;1237-1239.
21. Leier I., Jedlitschky G., Buchholz U., Center M., Cole S. P., Deeley R. G., Keppler D. ATP-dependent glutathione disulphide transport mediated by the MRP gene-encoded conjugate export pump. Biochem. J. 314:1996;433-437.
22. Liu P. P., Wijmenga C., Hajra A., Blake T. B., Kelley C. A., Adelstein R. S., Bagg A., Rector J., Cotelingam J., Willman C. L., Collins F. S. Identification of the chimeric protein product of the CBFB-MYH11 fusion gene in inv(16) leukemia cells. Genes Chromosomes Cancer. 16:1996;77-87.
23. Loe D. W., Almquist K. C., Cole S. P., Deeley R. G. ATP-dependent 17-β-estradiol 17-(β-d-glucuronide) transport by multidrug resistance protein (MRP). Inhibition by cholestatic steroids. J. Biol. Chem. 271:1996;9683-9689.
24. Loe D. W., Stewart R. K., Massey T. E., Deeley R. G., Cole S. P. ATP-dependent transport of aflatoxin B1 and its glutathione conjugates by the product of the multidrug resistance protein (MRP) gene. Mol. Pharmacol. 51:1997;1034-1041.
25. Longhurst T. J., O'Neill G. M., Harvie R. M., Davey R. A. The anthracycline resistance-associated (ara) gene, a novel gene associated with multidrug resistance in a human leukaemia cell line. Br. J. Cancer. 74:1996;1331-1335.
26. Muller M., Meijer C., Zaman G. J., Borst P., Scheper R. J., Mulder N. H., de Vries E. G., Jansen P. L. Overexpression of the gene encoding the multidrug resistance-associated protein results in increased ATP-dependent glutathione S-conjugate transport. Proc. Natl. Acad. Sci. USA. 91:1994;13033-13037.
27. Neldner K. Pseudoxanthoma elasticum. Clin. Derm. 6:1988;1-59.
28. Nishida H., Endo M., Koyanagi H., Ichihara T., Takao A., Maruyama M. Coronary artery bypass in a 15 year old girl with pseudoxanthoma elasticum. Ann. Thoracic Surg. 49:1990;483-485.
29. Ott J. Analysis of Human Genetic Linkage. 1999;Johns Hopkins Univ. Press, Baltimore.
30. Pope F. M. Historical evidence for the genetic heterogeneity of pseudoxanthoma elasticum. Br. J. Dermatol. 92:1975;493-509.
31. Raybould M. C., Birley A. J., Moss C., Hulten M., McKeown C. M. E. Exclusion of an elastin gene mutation as the cause of pseudoxanthoma elasticum (PXE) in one family. Clin. Genet. 45:1994;48-51.
32. Rucker R. B., Dubick M. A. Elastin metabolism and chemistry: Potential roles in lung development and structure. Environ. Health Perspect. 55:1984;179-191.
33. Sinnett D., Richer C., Baccichet A. Isolation of stable bacterial artificial chromosome DNA using a modified alkaline lysis method. BioTechniques. 24:1998;752-754.
34. Struk B., Neldner K. H., Rao V. S., St. Jean P., Lindpaintner K. Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1. Hum. Mol. Genet. 6:1997;1823-1828.
35. Templeton N. S., Rodgers L. A., Levy A. T., Ting K-L., Krutzsch H. C., Liotta L. A., Stetler-Stevenson N. G. Cloning and characterization of a novel human cDNA that has DNA similarity to the conserved region of the collagenase gene family. Genomics. 12:1992;175-176.
36. Terwilliger J. D., Ott J. Handbook of Human Genetic Linkage. 1994;Johns Hopkins Univ. Press, Baltimore.
37. Uitto J., Shamban A. Heritable skin diseases with molecular defects in collagen or elastin. Derm. Clin. 5:1987;63-84.
38. Uitto J., Pulkkinen L., Christiano A. M. Molecular basis of the dystrophic and junctional forms of epidermolysis bullosa: Mutations in the type VII collagen and kalinin (laminin 5) genes. Invest. Dermatol. 103:1994;39S-46S.
39. Uitto J., Boyd C. D., Lebwohl M. G., Moshell A. N., Rosenbloom J., Terry S. International Centennial Meeting on Pseudoxanthoma Elasticum: Progress in PXE research. J. Invest. Dermatol. 110:1998;840-842.
40. Van Soest S., Swart J., Tijmes N., Sandkuijl L. A., Rommers J., Bergen A. A. B. A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1. Genome Res. 7:1997;830-834.
41. Von Heijne G. A new method for predicting signal sequence cleavage sites. Nucleic Acids Res. 14:1986;4683-4690.
42. Watnick T. J., Gandolph M. A., Weber H., Neumann H. P., Germino G. G. Gene conversion is a likely cause of mutation in PKD1. Hum. Mol. Genet. 7:1998;1239-1243.
43. Weenink A. C., Dijkman G., de Meijer P. H. Pseudoxanthoma elasticum and its complication: Two case reports. Neth. J. Med. 49:1996;24-29.