Characterization of a cluster of sulfatase genes on Xp22.3 suggests gene duplications in an ancestral pseudoautosomal region

Human Molecular Genetics

Volumn 5, Issue 4, 1996, Pages 423-431

  Meroni, Germana ^a   Franco, Brunella ^a   Archidiacono, Nicoletta ^b   Messali, Silvia ^a   Andolfi, Grazia ^a   Rocchi, Mariano ^b   Ballabio, Andrea ^a,c  

^a TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^b UNIVERSITY OF BARI   (Italy)

^c UNIVERSITY OF SIENA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

SULFATASE;

AMINO ACID SEQUENCE; ARTICLE; BIOGENESIS; CHROMOSOME INACTIVATION; CHROMOSOME XP; CROSSING OVER; EXON; GENE CLUSTER; GENE DUPLICATION; GENE LOCATION; GENE MAPPING; GENE STRUCTURE; HUMAN; HUMAN CELL; INTRON; MEIOSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PSEUDOGENE; SEQUENCE ANALYSIS; X CHROMOSOME; Y CHROMOSOME;

ANIMALS; ARYLSULFATASES; BASE SEQUENCE; CHROMOSOME MAPPING; DNA; EVOLUTION, MOLECULAR; HUMANS; MOLECULAR SEQUENCE DATA; MULTIGENE FAMILY; PRIMATES; PSEUDOGENES; SEQUENCE HOMOLOGY, NUCLEIC ACID; X CHROMOSOME; Y CHROMOSOME;

EID: 0029987932     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.4.423     Document Type: Article

References (43)

1. Burgoyne, P.S. (1982) Genetic homology and crossing over in the X and Y chromosomes of mammals. Hum. Genet. 61, 85-90.
2. Simmler, M.-C., Rouyer, F., Vergnaud, G., Nyström-Lahti, M., Ngo, K.Y., de la Chapelle, A. and Weissenbach, J. (1985) Pseudoautosomal DNA sequences in the pairing region of the human sex chromosomes. Nature, 317, 692-697.
3. Cooke, H.J., Brown, W.R.A. and Rappold, G.A. (1985) Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomal. Nature, 317, 687-692.
4. Ellis, N. and Goodfellow, P.N (1989) The mammalian pseudoautosomal region. Trends Genet., 5, 406-410.
5. Rappold, G.A. (1993) The pseudoautosomal regions of the human sex chromosomes. Hum. Genet., 92, 315-324.
6. Petit, C., Levilliers, J. and Weissenbach, J. (1988) Physical mapping of the human pseudo-autosomal region; comparison with genetic linkage map. EMBO J., 7, 2369-2376.
7. Marshall Graves, J.A. (1995) The origin and function of the mammalian Y chromosome and Y-borne genes - an evolving understanding. BioEssays, 17, 311-320.
8. Rouyer, F., Simmler, M.C., Johnsson, C., Vergnaud, G., Cooke, H.J. and Weissenbach, J. (1986) A gradient of sex linkage in the pseudoautosomal region of the human sex chromosomes Nature, 319, 291-295
9. Petit, C , Levilliers, J., Rouyer, F., Simmler, M.C., Herouin, E. and Weissenbach, J. (1990) Isolation of sequences from Xp22 3 and deletion mapping using sex chromosome rearrangements from human X-Y interchange sex reversals. Genomics, 6, 651-658.
10. Buckle, V., Mondello, C., Darling, S , Craig, I.W. and Goodfellow, P.N. (1985) Homologous expressed genes in the human sex chromosome pairing region. Nature, 317, 739-741
11. Ellis, N.A., Ye, T.-Z., Patton, S., German, J , Goodfellow, P.N. and Weller, P. (1994) Cloning of PBDX, an MIC2-related gene that spans the pseudoautosomal boundary on chromosome Xp. Nature Genet., 6, 394-399.
12. Ellis, N.A., Tippett, P., Petty, A., Reid, M., Weller, P.A., Ye, T.Z., German, J., Goodfellow, P.N., Thomas, S. and Banting, G. (1994) PBDX is the XG blood group gene. Nature Genet., 8, 285-289.
13. Smith, M.J. and Goodfellow, P N. (1994) MIC2R: a transcribed MIC2-related sequence associated with a CpG island in the human pseudoautosomal region. Hum. Mol. Genet., 3, 1575-1582.
14. Franco, B., Meroni, G., Parenti, G., Levilliers, J , Bernard, L., Gebbia, M., Cox, L., Maroteaux, P., Sheffield, L., Rappold, G.A., Andria, G., Petit, C. and Ballabio, A. (1995) A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for Warfarin embryopathy. Cell, 81, 15-25.
15. Yen, P.H., Allen, E., Marsh, B., Mohandas, T., Wang, N., Taggart, R.T. and Shapiro, L.J. (1987) Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: Implication for X-Y interchange. Cell, 49, 443-454.
16. Kolodny, E H. and Fluharty, A L. (1995) Metachromatic leukodystrophy and multiple sulfatase deficiency: sulfatide lipidosis. In Scriver, C.R., Beaudet, A.L., Sly, W.S. and Valle, D. (eds), The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, New York, pp. 2693-2741
17. Neufeld, E.F. and Muenzer, J. (1995) The mucopolysaccharidoses. In Scriver, C.R , Beaudet, A.L., Sly, W.S. and Valle, D. (eds), The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, New York, pp. 2645-2494.
18. Ballabio, A. and Shapiro, L.J. (1995) STS deficiency and X-linked ichthyosis. In Scriver, C.R., Beaudet, A.L., Sly, W.S. and Valle, D. (eds), The Metabolic and Molecular Bases of Inherited Disease, McGraw-Hill, New York, pp. 2999-3022.
19. Sasaki, H., Yamada, K., Akasaka, K., Kawasaki, H., Suzuki, K., Saito, A., Sato, M. and Shimada, H. (1988) cDNA cloning, nucleotide sequence and expression of the gene for arylsulfatase in the sea urchin (Hemicentrotus pulcherrimus) embryo. Eur. J. Biochem., 177, 9-13.
20. Daniels, D.L , Plunkett III, G., Burland, V. and Blattner, F.R. (1992) Analysis of the Escherichia coli genome: DNA sequence of the region from 84.5 to 86.5 minutes. Science, 257, 771-778.
21. Franco, B., Guioli, S., Pragliola, A., Incerti, B., Bardoni, B., Tonlorenzi, R., Carrozzo, R., Maestrini, E., Pieretti, M., Taillon-Miller, P., Brown, C.J., Willard, H.F., Lawrence, C., Persico, M.G., Camerino, G. and Ballabio, A. (1991) A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature, 353, 529-536.
22. Legouis, R , Hardelin, J.-P., Levilliers, J., Claverie, J.-M., Compain, S., Wunderle, V., Millasseau, P., Le Paslier, D., Cohen, D., Caterina, D., Bougueleret, L., Delemarre-Van de Waal, H., Lutfalla, G., Weissenbach, J. and Petit, C. (1991) The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules. Cell, 67, 423-435.
23. Incerti, B , Guioli, S., Pragliola, A., Zanaria, E., Borsani, G., Tonlorenzi, R., Bardoni, B., Franco, B., Wheeler, D., Ballabio, A. and Camerino, G. (1992) Kallmann syndrome gene on the X and Y chromosomes: implications for evolutionary divergence of human sex chromosomes. Nature Genet., 2, 311-314.
24. del Castillo, I., Cohen-Salmon, M., Blanchard, S., Lutfalla, G. and Petit, C. (1992) Structure of the X-linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome. Nature Genet., 2, 305-310.
25. Ferrero, G.B., Franco, B., Roth, E.J., Firulli, B.A., Borsani, G., Delmas-Mata, J., Weissenbach, J., Halley, G., Schlessinger, D., Chinault, A.C., Zoghbi, H.Y., L , N.D and Ballabio, A. (1995) An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3. Hum. Mol. Genet., 4, 1821-1827
26. Shapiro, M.B. and Senapathy, P. (1987) RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression Nucleic Acids Res., 15, 7155-7174.
27. Wilson, P.J., Meaney, C.A., Hopwood, J.J. and Morris, C.P. (1993) Sequence of the human iduronate 2-sulfatase (IDS) gene. Genomics, 17, 773-775.
28. Morris, C.P., Guo, X.-H., Apostolou, S., Hopwood, J.J. and Scott, H.S. (1994) Morquio A syndrome: cloning, sequence, and structure of the human N-acetylgalactosamine 6-sulfatase (GALNS) gene. Genomics, 22, 652-654.
29. Kreysing, J , von Figura, K. and Gieselmann, V. (1990) Structure of the arylsulfatase A gene. Eur. J. Biochem., 191, 627-631.
30. Modaressi, S , Rupp, K., von Figura, K. and Peters, C. (1993) Structure of the human arylsulfatase B gene. Biol. Chem. Hoppe Seyler, 374, 327-335.
31. Yen, P.H., Marsh, B., Allen, E., Tsai, S.P., Ellison, J., Connolly, L., Neiswanger, K. and Shapiro, L.J. (1988) The human X-linked steroid sulfatase gene and a Y-encoded pseudogene: evidence for an inversion of the Y chromosome during primate evolution. Cell, 55, 1123-1135.
32. Fraser, N., Ballabio, A., Zollo, M., Persico, M.G. and Craig, I. (1987) Identification of incomplete coding sequences for steroid sulphatase on the human Y chromosome: evidence for an ancestral pseudoautosomal gene? Development 101, 127-132.
33. Weller, P.A., Critcher, R., Goodfellow, P.N., German, J. and Ellis, N.A. (1995) The human Y chromosome homologue of XG: transcription of a naturally truncated gene. Hum. Mol. Genet., 4, 859-868.
34. Klink, A., Schiebel, K., Winkelmann, M., Rao, E., Horsthemke, B., Lüdecke, H.-J., Claussen, U., Scherer, G. and Rappold, G. (1995) The human protein kinase gene PKX1 on Xp22.3 displays Xp/Yp homology and is a site of chromosomal instability. Hum. Mol. Genet., 4, 869-878.
35. Foote, S., Vollrath, D., Hilton, A. and Page, D.C. (1992) The human Y chromosome: overlapping DNA clones spanning the euchromatic region. Science, 258, 60-66.
36. Rouyer, F., de la Chapelle, A., Andersson, M. and Weissenbach, J. (1990) An interspersed repeated sequence specific for human subtelomeric regions. EMBO J., 9, 505-514.
37. Ellis, N., Yen, P., Neiswanger, K., Shapiro, L.J. and Goodfellow, P.N. (1990) Evolution of the pseudoautosomal boundary in old world monkeys and great apes. Cell, 63, 977-986.
38. Rugarli, E., Adler, D.A., Borsani, G., Tsuchiya, K., Franco, B., Hauge, X., Disteche, C., Chapman, V. and Ballabio, A. (1995) Different chromosomal localization of the Clcn4 gene in Mus spretus and C57BL/6J mice. Nature Genet., 10, 466-471.
39. Palmer, S., Perry, J. and Ashworth, A. (1995) A contravention of Ohno's law in mice. Nature Genet., 10, 472-476.
40. den Dunnen, J.T. and Van Ommen, G.J.B. (1991) Protocols in human molecular genetics. In Mathew, C. (ed.), Methods in Molecular Biology. The Humana Press, Inc., Clifton, Vol. 9, pp. 169-182.
41. Lichter, P., Tang, C.-J.C., Call, K., Hermanson, G., Evans, G.A., Housman, D. and Ward, D.C. (1990) High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones Science, 247, 64-69.
42. Antonacci, R., Marzella, R., Finelli, P., Lonoce, A., Forabosco, A., Archidiacono, N. and Rocchi, M. (1995) A panel of subchromosomal painting libraries representing over 300 regions of the human genome. Cytogenet. Cell Genet., 68, 25-32.
43. Toder, R., Zeitler, S., Goodfellow, P.N. and Schempp, W. (1993) Comparative mapping of SRY in the great apes. Chromosome Res., 1, 117-120.