Abstract
To facilitate the positional cloning of the genes involved in retinoschisis (RS), keratosis follicularis spinulosa decalvans (KFSD), Coffin-Lowry syndrome (CLS), X-linked hypophosphatemic rickets (XLH, locus name HYP) and X-linked dominant cone-rod degeneration (locus name RP15), we have extended the molecular map of the Xp22 region. Screening of several YAC libraries allowed us to identify 156 YACs, 52 of which localize between markers DXS414 (P90) and DXS451 (kQST80H1). Analysis of their marker content facilitated the construction of a YAC contig from the region spanning (in this order): DXS414 — DXS987 — DXS207 — DXS1053 — DXS197 — DXS43 — DXS1195 — DXS418 — DXS999 — PDHA1 — DXS7161 — DXS443 — DXS7592 — DXS1229 — DXS365 — DXS7101 — DXS7593 — DXS1052 — DXS274 — DXS989 — DXS451. The region between DXS414 and DXS451 covers about 4.5–5 Mb. Two additional markers (DXS7593 and DXS7592) were placed in the region, thereby increasing the genetic resolution. Using the deduced marker order, the analysis of key recombinants in families segregating RS allowed us to refine the critical region for RS to 0.6 Mb, between DXS418 and DXS7161.
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References
Poustka AM, Schlessinger D: Report of the Fifth International Workshop on Human X Chromosome Mapping 1994. Heidelberg, April 1994. Cytogenet Cell Genet 1994;67:295–358
McGuire RE, Sullivan LS, Blanton SH, Church MW, Heckenlively JR, Daiger SP: X-linked dominant cone-rod degeneration: Linkage mapping of a new locus for retinitis pigmentosa (RP15) to Xp22.13-p22.11. Am J Hum Genet 1995;57:87–94
Bergen AAB, Ten Brink JB, Bleeker-Wagemakers LM, Van Schooneveld MJ: Refinement of the chromosomal position of the X-linked juvenile retinoschisis disease gene. J Med Genet 1994;31:972–975
Pawar H, Bingham EL, Lunetta KL, Segal M, Richards JE, Boehnke M, Sieving PA: Refined genetic mapping of juvenile X-linked retinoschisis. Hum Hered 1995;45:206–210
Dumur V, Trivier E, Puech B, Peugnet F, Zanlonghi X, Hache JC, Hanauer A: Genetic analysis of new French X-linked juvenile retinoschisis kindreds using microsatelhte markers closely linked to the RS locus: Further narrowing of the RS candidate region. Hum Genet 1995;96:79–82
George NDL, Payne SJ, Barton DE, Moore AT, Yates JRW: Genetic mapping of X-linked retinoschisis. Cytogenet Cell Genet 1994;67:354.
Oosterwijk JC, Nelen M, van Zandvoort PM, van Osch LDM, Oranje AP, Wittebol-Post D, Van Oost BA: Linkage analysis of keratosis follicularis spinulosa decalvans, and regional assignment to human chromosome Xp21.2–p22.2. Am J Hum Genet 1992;50:801–807
Coffey AJ, Roberts RG, Green ED, Cole CG, Butler R, Anand R, Gianelli F, Bentley DR: Construction of a 2.6-Mb contig in yeast artificial chromosomes spanning the human dystrophin gene using an STS-based approach. Genomics 1992;12:474–484
Alitalo T, Francis F, Kere J, Lehrach H, Schlessinger D, Willard HF: A 6-Mb YAC contig in Xp22.1–p22.2 spanning the DXS69E, XE59, GLRA2, PIGA, GRPR, CALB3 and PHKA2 genes. Genomics 1995;25:691–700
Ferrero GB, Franco B, Roth EJ, Firulli BA, Borsani G, Delmas-Mata J, Weissenbach J, Halley G, Schlessinger D, Chinault AC, Zoghbi HY, Nelson DL, Ballabio A: An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3. Hum Mol Genet 1995;4:1821–1827
Francis F, Rowe PSN, Econs MJ, Gee See C, Benham F, O’Riordan JLH, Drezner MK, Hamvas RMJ, Lehrach H: A YAC contig spanning the hypophosphatemic rickets disease gene (HYP) candidate region. Genomics 1994;21:229–237
Oosterwijk JC, Van der Wielen MJR, Van de Vosse E, Voorhoeve E, Bakker E: Refinement of the localisation of X-linked keratosis follicularis spinulosa decalvans (KFSD) gene in Xp22.1–p22.2. J Med Genet 1995;32:736–739.
Chumakov IM, Le Gall I, Billault A, Ougen P, Soularue P, Guillou S, Rigault P, Bui H, De Tand M-F, Barillot E, Abderrahim H, Cherif D, Berger R, Le Paslier D, Cohen D: Isolation of chromosome 21-specific yeast artificial chromosomes from a total human genome library. Nature Genet 1992;1:222–225
Anand R, Riley JH, Butler R, Smith JC, Markham AF: A 3.5 genome equivalent multi-access YAC library: Construction, characterisation, screening and storage. Nucleic Acids Res 1990;18:1951–1956
Larin Z, Monaco AP, Lehrach H: Yeast artificial chromosome libraries containing large inserts from mouse and human DNA. Proc Natl Acad Sci USA 1991;88:4123–4127
Rowe PSN, Goulding J, Read A, Lehrach H, Francis F, Hanauer A, Oudet C, Biancalana V, Kooh SW, Davies KE, O’Riordan JLH: Refining the genetic map for the region flanking the X-linked hypophosphataemic rickets locus (Xp22.1–22.2). Hum Genet 1994;93:291–294
Cohen D, Chumakov I, Weissenbach J: A first generation physical map of the human genome. Nature 1993;366:698–701
The HYP Consortium: A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. Nature Genet 1995;11:130–136
Acknowledgements
Gridded colony and Alu-PCR filters of YAC libraries were provided by Denis Le Paslier and Ilya Chumakov (Centre d’Etude du Polymorphisme Humain, Paris, France), Günther Zehetner (Imperial Cancer Research Fund, London, UK) and the YAC Screening Center Leiden (The Netherlands, supported by NWO and EU-grant PL930088). These studies were supported by de Nederlandse Organisatie voor Wetenschappelijk Onderzoek (NWO), de Nederlandse Vereniging ter Voorkoming van Blindheid, het Klinisch Genetisch Centrum Leiden (KGCL), the Medical Research Council (MRC) and the Wellcome Trust.
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Van de Vosse, E., Bergen, A.A.B., Meershoek, E.J. et al. An Xp22.1–p22.2 YAC Contig Encompassing the Disease Loci for RS, KFSD, CLS, HYP and RP15: Refined Localization of RS. Eur J Hum Genet 4, 101–104 (1996). https://doi.org/10.1159/000472177
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DOI: https://doi.org/10.1159/000472177
