Homologous nonallelic recombinations between the iduronate-sulfatase gene and pseudogene cause various intragenic deletions and inversions in patients with mucopolysaccharidosis type II

European Journal of Human Genetics

Volumn 6, Issue 5, 1998, Pages 492-500

  Bunge, Susanna ^a   Rathmann, Michaela ^a   Steglich, Cordula ^a   Bondeson, Marie Louise ^b   Tylki Szymanska, Anna ^c   Popowska, Ewa ^c   Gal, Andreas ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b UPPSALA UNIVERSITY   (Sweden)

^c Child Health Centre   (Poland)

Author keywords

Deletion; Gene conversion; Hunter syndrome; IDS 2; Inversion; MPS II; Pseudogene; Recombination

Indexed keywords

IDURONATE 2 SULFATASE;

ARTICLE; CHROMOSOME XQ; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; GENE CONVERSION; GENE DELETION; GENE STRUCTURE; GENETIC RECOMBINATION; HUMAN; HUMAN CELL; HUNTER SYNDROME; INTRON; PRIORITY JOURNAL; PSEUDOGENE; SEQUENCE HOMOLOGY; SOUTHERN BLOTTING;

MAMMALIA;

EID: 0031788063     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200213     Document Type: Article

References (26)

1. Neufeld E, Muenzer J: The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds). The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill: New York, 1995, 2465-2494.
2. Wilson PJ, Morris CP, Anson DS et al: Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA. Proc Natl Acad Sci USA 1990; 87: 8531-8535.
3. Flomen RH, Green EP, Green PM, Bentley DR, Giannelli F: Determination of the organisation of coding sequences within the iduronate sulphate sulphatase (IDS) gene. Hum Mol Genet 1993; 2: 5-10.
4. Wilson PJ, Meaney CA, Hopwood JJ, Morris CP: Sequence of the human iduronate-2-sulfatase (IDS) gene. Genomics 1993; 17: 773-775.
5. Hopwood JJ, Bunge S, Morris CP et al: Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene. Hum Mutat 1993; 2: 435-442.
6. Rathmann M, Bunge S, Beck M, Kresse H, Tylki-Szymanska A, Gal A: Mucopolysaccharidosis type II (Hunter syndrome): Mutation 'hot spots' in the iduronate-2-sulfatase gene. Am J Hum Genet 1996; 59: 1202-1209.
7. Rathmann M, Bunge S, Steglich C, Schwinger E, Gal A: Evidence for an iduronate-sulfatase pseudogene near the functional Hunter syndrome gene in Xq27.3-q28. Hum Genet 1995; 95: 34-38.
8. Bondeson ML, Malmgren H, Dahl N, Carlberg BM, Pettersson U: Presence of an IDS-related locus (IDS2) in Xq28 complicates the mutational analysis of Hunter syndrome. Eur J Hum Genet 1995; 3: 219-227.
9. Timms KM, Lu F, Shen Y et al: 130 kilobases of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus. Genome Res 1995; 5: 71-78.
10. Bondeson ML, Dahl N, Malmgren H et al: Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome. Hum Mol Genet 1995; 4: 615-621.
11. Steen-Bondeson ML, Dahl N, Tönneson T et al: Molecular analysis of patients with Hunter syndrome: implication of a region prone to structural alteration within the IDS gene. Hum Mol Genet 1992; 1: 195-198.
12. Steglich C, Bunge S, Hulsebos T et al: Molecular analysis of patients with mucopolysaccharidosis type II suggests that DXS466 maps within the Hunter gene. Hum Genet 1993; 92: 179-182.
13. Bunge S, Steglich C, Beck M et al: Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome). Hum Mol Genet 1992; 1: 335-339.
14. Bunge S, Steglich C, Zuther C et al: Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome). Hum Mol Genet 1993; 2: 1871-1875.
15. Lagerstedt K, Karsten SL, Carlberg B-M et al: Doublestrand breaks may initiate the inversion mutation causing the Hunter syndrome. Hum Mol Genet 1997; 6: 627-633.
16. Popowska E, Rathmann M, Tylki-Szymanska A et al: Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome). Hum Mutat 1995; 5: 97-100.
17. Bollag RJ, Liskay RM: Conservative intrachromosomal recombination between inverted repeats in mouse cells: association between reciprocal exchange and gene conversion. Genetics 1988; 119: 161-169.
18. Metzenberg AB, Wurzer G, Huismann THJ, Smithies O: Homology requirements for unequal crossing over in humans. Genetics 1991; 128: 143-161.
19. Naylor JA, Buck D, Green P, Williamson H, Bentley D, Gianelli F: Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions. Hum Mol Genet 1995; 4: 1217-1224.
20. Chen EY, Zollo M, Mazzarella R et al: Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci. Hum Mol Genet 1996; 5: 659-668.
21. Small K, Iber J, Warren ST: Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats. Nat Genet 1997; 16: 96-99.
22. Rossiter JP, Young M, Kimbberland ML et al: Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells. Hum Mol Genet 1994; 3: 1035-1039.
23. Mezard C, Nicolas A: Homologous, homeologous, and illegitimate repair of double-strand breaks during transformation of a wild-type strain and a rad52 mutant strain of Saccharomyces cerevisiae. Mol Cell Biol 1994; 14: 1278-1292.
24. Ketterling RP, Ricke DO, Wurster MW, Sommer SS: Deletions with inversions: Report of a mutation and review of the literature. Hum Mutat 1993; 2: 53-57.
25. Lazaro C, Gaona A, Lynch M, Kruyer H, Ravella A, Estivil X: Molecular characterization of the breakpoints of a 12-kb deletion in the NF1 gene in a family showing germ-line mosaicism. Am J Hum Genet 1995; 57: 1044-1049.
26. Birot A-M, Bouton O, Froissart R, Maire I, Bozon D: IDS gene-pseudogene exchange responsible for an intragenic deletion in a Hunter patient. Hum Mutat 1996; 8: 44-50.