Localization by fluorescence in situ hybridization of the human functional β-glucuronidase gene (GUSB) to 7q11.21→q11.22 and two pseudogenes to 5p13 and 5q13

Cytogenetics and Cell Genetics

Volumn 72, Issue 1, 1996, Pages 53-55

  Speleman, F ^a   Vervoort, R ^b   Van Roy, N ^a   Liebaers, I ^b   Sly, W S ^c   Lissens, W ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^c SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GLUCURONIDASE;

ARTICLE; CHROMOSOME 5P; CHROMOSOME 5Q; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LOCATION; GENE MAPPING; HUMAN; HUMAN CELL; NORMAL HUMAN; PRIORITY JOURNAL; PSEUDOGENE;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 5; CHROMOSOMES, HUMAN, PAIR 7; GLUCURONIDASE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; PSEUDOGENES;

EID: 0030040755     PISSN: 03010171     EISSN: 1424859X     Source Type: Journal    
DOI: 10.1159/000134161     Document Type: Article

References (22)

1. Allanson JE, Gemmili RM, Hecht BK, Johnsen S, Wenger DA: Deletion mapping of the [I-glucuronidase gene, Am J med Genet 29:517-522 (1988).
2. Arfin SM, Cirullo RE, Arredondo-Vega FX, Smith M: Assignment of structural gene for asparagine synthetase to human chromosome 7, Somat Cell Genet 9:517-531 (1983).
3. D’aiuto I, Anlonacci R, Marzella R, Archidiacono N, Rocchi M: Cloning and comparative mapping of a human chromosome 4-specific alpha satellite DNA sequence, Genomics 18:230-235 (1993).
4. Danesino C, Gimelli G, Cuoco C, Ciccone MO: Triplex gene dosage effect for ß-glucuronidase and possible assignment to band q22 in a partial duplication 7q, Hum Genet 56:371-373 (1981).
5. Ewart AK, Morris CA, Atkinson D, Jin W, Sternes K, Spallone P, Stock AD, Leppert M, Keating MT: Hemizygositv at the clastin locus in a developmental disorder, Williams syndrome, Nature Genet 5:11-16 (1993).
6. Fazio MJ, Maltei M-G, Passage E, C'hu M-L, Black D, Solomon E, Davidson JM, Uitto J: Human elastin gene: new evidence for localization to the long arm of chromosome 7, Am J hum Genet 48:696-703 (1991).
7. Frydman M, Steinberger J, Shabtai F, Steinherz R: Interstitial 7q deletion in a retarded quadriplegic boy with normal beta glucuronidase, Am J med Genet 25:245-249 (1986).
8. Lichter P, Chang Tang C, Call K, Hermanson G, Evans GA, Housman D, Ward DC: High resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones, Science 247:64-69 (1990).
9. Mecra Khan P, Robson EB: Report of the committee on the genetic constitution of chromosomes 7, 8 and 9, Fifth International Workshop on Human Gene Mapping, Cvtogenet Cell Genet 25:39-46 (1979).
10. Miller RD, Hoffmann JW, Powell PP, Kyle JW, Shipley JM, Bachinsky DR, Sly WS: Cloning and characterization of the human p-glucuronidase gene, Genomics 7:280-283 (1990).
11. Morris CA, Loker J, Ensing G, Stock AD: Supravalvu-lar aortic stenosis cosegregalcs with a familial 6:7 translocation which disrupts the elastin gene, Am J med Genet 46:737-744 (1993).
12. Neufeld EF, Muenzer J: The mucopolysaccharidoses, in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic Basis of Inherited Disease, pp 2465-2494 (McGraw-Hill, New York 1995).
13. Oshima A, Kyle JW, Miller RD, Hoffman JW, Powell PP, Grubb JH, Sly WS, Tropak M, Guise KS, Gravel RA: Cloning, sequencing, and expression of cDNA for human ß-glucuronidase, Proc natl Acad Sci, USA 84:685-689 (1987).
14. Rommens JM, Zengerling S, Bums J, Melmer G, Ker-cm B-S, Plavsic N, Zsiga M, Kennedy D, Markie-wicz D, Rozmahel R, Riordan JR, Buchwald M, Tsui L-C: Identification and regional localization of DNA markers on chromosome 7 for the cloning of the cystic fibrosis gene, Am J hum Genet 43:645-663 (1988).
15. Scherer SW, Poorkaj I’, Allen T, Kim J, Geshuri D, Nunes M, Soder S, Stephens K, Pagon RA, Patton MA, Berg MA, Donlon T, Rivera H, Pfeiffer RA, Naritomi K, Hughes H, Genuardi M, Gurrieri F, Neri G, Ixrvrein E, Magenis E, Tsui L-C, Evans JP: Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1, Am J hum Genet 55:12-20 (1994).
16. Scherer SW, Rommens JM, Soder S, Wong E, Plavsic N, Tompkins BJF, Beattie A, Kim J, Tsui L-C: Refined localization and yeast artificial chromosome (YAC) contig-mapping of genes and DNA segments in the 7q2l→q32 region, Hum molec Genet 2:751-760 (1993).
17. Shipley JM, Klinkenberg M, Wu BM, Bachinsky DR, Grubb JH, Sly WS: Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes, Am J hum Genet 52:517-526 (1993).
18. Theodosiou AM, Morisson KF., Ncsbit AM, Daniels RJ, Campbell L, Francis MJ, Christodoulou Z, Davies KE: Complex repetitive arrangements of gene sequence in the candidate region of the spinal muscular atrophy gene in 5q 13, Am J hum Genet 55:1209-1217 (1994).
19. Thompson TG, DiDonato CJ, Simard LR, Ingraham SE, Burghcs AHM, Crawford TO, Rochette C, Mendell JR, Wasmuth JJ: A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients, Nature Genet 9:56-62 (1995).
20. Van Roy N, Laureys G, Versteeg R, Opdenakker G, Spcleman F: High resolution lluroresccncc map-pingof46 DNA markers to the short arm of human chromosome I, Genomics 18:71-78 (1993).
21. Vervoort R, Lissens W, Liebaers I: Molecular analysis of a patient with hydrops fetalis caused by ß-gluc-uronidasc deficiency, and evidence for additional pseudogenes, Hum Mutat 2:443-445 (1993).
22. Ward JC, Sharpe CR, Luthardt FW, Martens PR, Palmer CG: Regional gene mapping of human i-glucuronidase (GUSB) by dosage analysis: assignment:o region 7ql l.23-7q2l, Am J hum Genet 35:56A (1983).