Skip to main content
Log in

Regional localization of DNA probes on the short arm of chromosome 11 using aniridia-Wilms' tumor-associated deletions

  • Original Investigations
  • Published:
Human Genetics Aims and scope Submit manuscript

Summary

We are interested in the precise localization of various DNA probes on the short arm of chromosome 11 for our research on the aniridia-Wilms' tumor association (AWTA), assigned to region 11p13 (Knudson and Strong 1972; Riccardi et al. 1978). For this purpose we have screened lymphocyte DNA and material derived from somatic cell hybrids from individuals with constitutional 11p deletions with a range of available probes: D11S12; calcitonin/CGRP (CALC1/CALC2); insulin (INS); Harvey ras 1 (HRAS 1); beta-globin gene cluster (HBBC); human insulin-like growth factor 2 (IGF-2); parathyroid hormone (PTH); human pepsinogen A (PGA). Using this material, it has been possible to map all probes used, except insulin, outside the region 11p111-p15.1, resulting in an SRO (same regional overlap) of 11p15.1-p15.5 for most probes. We found an SRO for PGA of 11p111-q12 and an SRO for CALC2 of 11p15.1-p15.5 or 11p111-q12. We have localised the insulin gene to band 11p15.1.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  • Antonarakis SE, Philips JA, Mallonee RL, Kazazian HH, Fearon ER, Waber PG, Kronenberg HM, Ullrich A, Meyers DA (1983) Beta-globin locus is linked to the parathyroid hormone (PTH) locus and lies between the insulin and PTH locus in man. Proc Natl Acad Sci USA 80:6615–6619

    Google Scholar 

  • Baas F, Bikker H, van Ommen GJB, de Vijlder JJM (1984) Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. A linkage study suggesting autosomal dominance of a defective thyroglobulin allele. Hum Genet 67:301–305

    Google Scholar 

  • Baas F, Bikker H, Geurts van Kessel A, Melsert R, Pearson PL, de Vijlder JJM, van Ommen GJB (1985) The human thyroglobin gene: a polymorphic marker localized distal to c-MYC on chromosome 8 band q24. Hum Genet 69:138–143

    Google Scholar 

  • Barbi G, Steinbach P, Vogel W (1984) Nonrandom distribution of methotrexate-induced aberrations on human chromosomes. Detection of further folic acid sensitive fragile sites. Hum Genet 68: 290–294

    Google Scholar 

  • Barker D, Holm T, White R (1984) A locus on chromosome 11p with multiple restriction site polymorphisms. Am J Hum Genet 36: 1159–1171

    Google Scholar 

  • Bell GI, Selby MJ, Rutter WJ (1982) The highly polymorphic region near the human insulin gene is composed of simple tandemly repeating sequences. Nature 295:31–35

    Google Scholar 

  • Bell IG, Gerhard DS, Fong NM, Sanchez-Pescador R, Rall LB (1985) Isolation of the human insulin-like growth factor genes: insulinlike growth factor II and insulin genes are contiguous. Proc. Natl Acad Sci USA 82:6450–6454

    Google Scholar 

  • Brissenden JE, Ullrich A, Francke U (1984) Human chromosomal mapping of genes for insulin-like growth factors I and II and epidermal growth factor. Nature 310:781–784

    Google Scholar 

  • Capon DJ, Chen EY, Levinson AD, Seeburg PH, Goeddel DV (1983) Complete nucleotide sequences of the T24 human bladder carcinoma oncogene and its normal homologue. Nature 302:33–37

    Google Scholar 

  • Cavenee WK, Dryja TP, Phillips RA, Benedict WF, Godbout R, Gallie BL, Murphree AL, Strong LC, White RL (1983) Expression of recessive alleles by chromosomal mechanisms in retinoblastoma. Nature 305:779–784

    Google Scholar 

  • Changanti RSK, Jhanwar SC, Antonarakis SE, Hayward WS (1985) Germline chromosomal localization of genes in chromosomes 11p linkage: parathyroid hormone, beta-globin, c-Ha-ras and insulin. Somatic Cell Mol Genet 11:197–202

    Google Scholar 

  • Chakravarti A, Bultow KH, Antonarakis SE, Waber PG, Boehm CD, Kazazian HH (1984) Nonuniform recombination within the human beta-globin gene cluster. Am J Hum Genet 36:1239–1258

    Google Scholar 

  • Chakravarti A, Elbein SC, Permutt MA (1986) Evidence for increased recombination near the human insulin gene: implication for disease association studies. Proc Natl Acad Sci USA 83:1045–1049

    Google Scholar 

  • De Martinville B, Francke U (1983) Hras-1, insulin and beta-globin loci map outside the deletion associated with aniridia-Wilms' tumor. Nature 305:641–643

    Google Scholar 

  • Eccles MR, Millow LJ, Wilkins RJ, Reeve AE (1984) Harvey-ras allele deletion detected by in situ hybridization to Wilms' tumor chromosomes. Hum Genet 67:190–192

    Google Scholar 

  • Fearon ER, Antonarakis SE, Meyers DA, Levine MA (1984a) C-Haras-1 oncogene lies between beta-globin and insulin loci on human chromosome 11p. Am J Hum Genet 36:329–337

    Google Scholar 

  • Fearon ER, Vogelstein B, Feinberg AP (1984b) Somatic deletion and duplication of genes on chromosome 11 in Wilms' tumours. Nature 309:176–178

    Google Scholar 

  • Francke U, George DL, Riccardi VM (1977) Gene dose effect: intraband mapping of LDHA locus using cells from four individuals with different interstitial deletions of 11p. Cytogenet Cell Genet 19:197

    Google Scholar 

  • Francke U, Holmes LB, Atkins L, Riccardi VM (1979) Aniridia-Wilms' tumor association: evidence for specific deletion of 11p13. Cytogenet Cell Genet 24:185–192

    Google Scholar 

  • Gilgenkrantz S, Vigneron C, Gregoire MJ, Pernot C, Raspiller A (1982) Association of del(11)(p15.1p12), aniridia, catalase deficiency and cardiomyopathy. Am J Med Genet 13:39–49

    Google Scholar 

  • Glover TW (1981) Fudr induction of the X chromosome fregile site: evidence for the mechanism of folic acid and thyrmidine inhibition. Am J Hum Genet 33:234–242

    Google Scholar 

  • Glover TW, Berger C, Coyle J, Echo B (1984) DNA polymerase alpha inhibition by aphidicolin induces gaps and breaks at common fragile sites in human chromosomes. Hum Genet 67:136–142

    Google Scholar 

  • Godde-Salz E, Behnke H (1981) Aniridia, mental retardation and an unbalanced reciprocal translocation of chromosomes 8 and 11 with an interstitial deletion of 11p. Eur J Pediatr 136:93–96

    Google Scholar 

  • Gusella J, Varsanyi-Breiner A, Kao FT, Jones C, Pulk TT, Keys C, Orkin S, Houseman D (1979) Precise localisation of human betaglobin gene complex on chromosome 11. Proc Natl Acad Sci USA 76:5239–5243

    Google Scholar 

  • Harper ME, Ullrich A, Saunders GF (1981) Localization of the human insulin gene to the distal end of the short arm of chromosome 11. Proc Natl Acad Sci USA 78:4458–4460

    Google Scholar 

  • Hitman GA, Tarn AC, Winter RM, Drummond V, Williams LG, Jowett NI, Bottazzo GF, Galton DJ (1985) Type I (insulin-dependent) diabetes and a highly variable locus close to the insulin gene on chromosome 11. Diabetologia 28:218–222

    Google Scholar 

  • Hoppener JWM, Steenbergh PH, Zandberg J, Bakker E, Pearson PL, Geurts van Kessel AHM, Jansz HS, Lips CJM (1984) Localization of the polymorphic human calcitonin gene on chromosome 11. Hum Genet 66:309–312

    Google Scholar 

  • Hoppener JWM, Steenbergh PH, Zandberg J, Geurts van Kessel AHM, Baylin SB, Nelkin BD, Jansz HS, Lips CJM (1985) The second human calcitonin/CGRP gene is located on chromosome 11. Hum Genet 70:259–263

    Google Scholar 

  • Human Gene Mapping 8 (1985) 8th International Workshop on Human Gene Mapping. Cytogenet Cell Genet 40:1–4

  • Huerre C, Despoisse S, Gilgenkrantz S, Lenoir GM, Junien C (1983) c-Ha-ras 1 is not deleted in aniridia-Wilms' tumour association. Nature 305:638–641

    Google Scholar 

  • Jansen M, van Schaik FMA, van Tol H, van den Brande JL, Sussenbach JS (1985) Nucleotide sequences of cDNAs encoding precursors of human insulin-like growth factor II (IGFII) and an IGFII variant. FEBS Lett 179:243–246

    Google Scholar 

  • Jhanwar SC, Neel BG, Hayward WS, Chaganti RSK (1983) Localization of c-ras oncogene family on human germ-line chromosomes. Proc Natl Acad Sci USA 80:4794–4797

    Google Scholar 

  • Junien C, Turleau C, de Grouchy J, Said R, Rethore MO, Tenconi R, Dufier JL (1980) Regional assignment of catalase (CAT) gene to band 11p13. Association with the aniridia-Wilms' tumor-gonadoblastoma (WAGR) complex. Ann Génét (Paris) 23:165–168

    Google Scholar 

  • Kaneko Y, Egues MC, Rowley JD (1981) Interstitial deletion of short arm of chromosome 11 limited to Wilms' tumor cells in a patient without aniridia. Cancer Res 41:4577–4578

    Google Scholar 

  • Kaneko Y, Kondo K, Rowley JD, Moohr JW, Maurer HS (1983) Further chromosome studies on Wilms' tumor cells of patients without aniridia. Cancer Genet Cytogenet 10:191–198

    Google Scholar 

  • Kazazian HH Jr, Phillips JA III, Boehm CD, Vik TA, Mahoney MJ, Ritchey AK (1980) Prenatal diagnosis of beta-thalassemia by ammocentesis: linkage analysis using multiple polymorphic restriction endonuclease sites. Blood 56:926–930

    Google Scholar 

  • Kittur SD, Hoppener JWM, Antonarakis SE, Daniels JDJ, Meyers DA, Maestri NF, Jansen M, Korneluk RG, Nelkin BD, Kazazian HH Jr (1985) Linkage map of the short arm of human chromosome 11: location of the genes for catalase, calcitonin, and insulinlike growth factor II. Proc Natl Acad Sci USA 82:5064–5067

    Google Scholar 

  • Koufos A, Hansen MF, Lampkin BC, Workman ML, Copeland NG, Jenkins NA, Cavenee WK (1984) Loss of alleles at loci on human chromosome 11 during genesis of Wilms' tumour. Nature 309: 170–172

    Google Scholar 

  • Knudson AG, Strong LC (1972) Mutation and cancer: a model for Wilms' tumor of the kidney. JNCI 48:313–324

    Google Scholar 

  • Lebo RV, Cheung MC, Bruce BD, Riccardi VM, Kao FT, Kan YW (1985) Mapping parathyroid hormone, beta-globin, insulin, and LDH-A genes within the human chromosome 11 short arm by spot blotting sorted chromosomes. Hum Genet 69:316–320

    Google Scholar 

  • Lewis WH, Goguen JM, Powers VE, Willard HF, Michalopoulos EE (1985) Gene order on the short arm of human chromosome 11: regional assignment of the LDHA gene distal to catalase in two translocations. Hum Genet 71:249–253

    Google Scholar 

  • Little PFR, Annison G, Darling S, Williamson R, Camba L, Modell B (1980) Model for antenatal diagnosis of beta-thalassaemia and other monogenic disorders by molecular analysis of linked DNA polymorphism. Nature 285:144–147

    Google Scholar 

  • Malcolm S, Barton P, Murphy C, Ferguson-Smith MA (1981) Chromosomal localization of a single copy gene by in situ hybridization of human beta-globin genes on the short arm of chromosome 11. Ann Hum Genet 45:135–141

    Google Scholar 

  • Matsunaga E (1981) Genetics of Wilms' tumor. Hum Genet 57:231–246

    Google Scholar 

  • Miller RW, Fraumeni JF, Manning MD (1964) Association of Wilms' tumor with aniridia, hemihyperthrophy, and other congenital malformations. N Engl J Med 270:922–927

    Google Scholar 

  • Morton CC, Kirsh IR, Taub RA, Orkin SH, Brown JA (1984) Localization of the beta-globin gene by chromosomal in situ hybridization. Am J Hum Genet 36:576–585

    Google Scholar 

  • Nakagome Y, Ise T, Sakurai M, Nakaji T, Okamoto E, Takano T, Nakahori Y, Tsuchida Y, Nagahara N, Takada Y, Ohsawa Y, Sawaguchi S, Toyosaka A, Kobayashi N, Matsunaga E, Saito S (1984) High-resolution studies in patients with aniridia-Wilms' tumor association, Wilms' tumor or related congenital abnormalities. Hum Genet 67:245–248

    Google Scholar 

  • Natahara K, Kikkawa K, Kimira S, Kimoto H, Ogata M, Kasai R, Hamawaki M, Matsuoka K (1984) Regional mapping of catalase and Wilms' tumor-aniridia, genitourinary abnormalities, and mental retardation triad loci to the chromosome segment 11p1305-p1306. Hum Genet 66:181–185

    Google Scholar 

  • Naylor SL, Sakaguchi AY, Szoka P, Hendy GN, Kronenberg HM, Rich A, Shows TB (1983) Human parathyroid hormone gene (PTH) is on short arm of chrmosome 11. Somatic Cell Genet 9: 609–616

    Google Scholar 

  • Orkin SH, Goldman DS, Sallan SE (1984) Development of homozygosity for chromosome 11p markers in Wilms' tumor. Nature 309:172–174

    Google Scholar 

  • Przepiorka D, Baylin SB, McBride OW, Testa JR, de Bustros A, Nelkin BD (1984) The human calcitonin gene is located on the short arm of chromosome 11. Biochem Biophys Res Commun 120:493–499

    Google Scholar 

  • Raizis AM, Becroft DM, Shaw RL, Reeve AE (1985) A mitotic recombination in Wilms' tumor occurs between the parathyroid hormone locus and 11p13. Hum Genet 70:344–346

    Google Scholar 

  • Reeve AE, Housiaux PJ, Gardner RJM, Chewings WE, Grindley RM, Millow LJ (1984) Loss of a harvey ras allele in sporadic Wilms' tumour. Nature 309:174–176

    Google Scholar 

  • Reeve AE, Eccles MR, Wilkins RJ, Bell GI, Millow LJ (1985) Expression of insulin-like growth factor-II transcripts in Wilms' tumour. Nature 317:258–260

    Google Scholar 

  • Riccardi VM, Sujansky E, Smith AC, Francke U (1978) Chromosomal imbalance in the aniridia-Wilms' tumor association: 11p interstitial deletion. Pediatrics 61:604–610

    Google Scholar 

  • Riccardi VM, Hittner HM, Francke U, Yunis JJ, Ledbetter D, Borges W (1980) The aniridia-Wilms' tumor association: the critical role of chromosome band 11p13. Cancer Genet Cytogenet 2: 131–137

    Google Scholar 

  • Scott J, Cowell J, Robertson ME, Priestley LM, Wadey R, Hopkins B, Pritchard J, Bell GI, Rall LB, Graham CF, Knott TJ (1985) Insulin-like growth factor-II gene expression in Wilms' tumour and embryonic tissues. Nature 317:260–262

    Google Scholar 

  • Shih C, Weinberg RA (1982) Isolation of a transforming sequence from a human bladder carcinoma cell line. Cell 29:161–169

    Google Scholar 

  • Slater RM, de Kraker J (1982) Chromosome number 11 and Wilms' tumor. Cancer Genet Cytogenet 5:237–245

    Google Scholar 

  • Slater RM, de Kraker J, Voute PA, Delemarre JFM (1985) A cytogenetic study of Wilms' tumor. Cancer Genet Cytogenet 14:95–109

    Google Scholar 

  • Southern EM (1975) Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 98:503–517

    Google Scholar 

  • Szabo P, Purrello M, Rocchi M, Archidiacono N, Alhadeff B, Fillipi G, Toniolo D, Martini G, Luzatto L, Siniscalco M (1984) Cytological mapping of the human glucose-6-phosphate dehydrogenase gene to the fragile-X site suggests a high rate of meiotic recombination across this site. Proc Natl Acad Sci USA 81:7855–7859

    Google Scholar 

  • Taggart RT, Mohandas TK, Shows TB, Bell GI (1985) Variable numbers of pepsinogen genes are located in the centromeric region of human chromosome 11 and determine the high-frequency electrophoretic polymorphism. Proc Natl Acad Sci USA 82:6240–6244

    Google Scholar 

  • Turleau C, de Grouchy J, Nihoul-Fekete C, Duffier JL, Chavin-Colin F, Junien C (1984a) Del 11p13/nephroblastoma without aniridia. Hum Genet 67:455–456

    Google Scholar 

  • Turleau C, de Grouchy J, Chavin-Colin F, Martelli H, Voyer M, Charlas R (1984b) Trisomy 11p15 and Beckwith-Wiedemann syndrome. A report of two cases. Hum Genet 67:219–221

    Google Scholar 

  • Waziri M, Shivanand RP, Hanson JW, Bartley JA (1983) Abnormality of chromosome 11 in patients with features of Beckwith-Wiedemann syndrome. J Pediatr 102:873–876

    Google Scholar 

  • Weening RS, Roos D, Loos JA (1974) Oxygen consumption of phagocytising cells in human leucocyte and granulocyte preparations: a comparative study. J Lab Clin Med 83:570–576

    Google Scholar 

  • Yunis JJ, Soreng AL (1984) Constitutive fragile sites and cancer. Science 226:1199–1204

    Google Scholar 

  • Zabel BU, Kronenberg HM, Bell GI, Shows TB (1985) Chromosome mapping of genes on the short arm of human chromosome 11: parathyroid hormone gene is at 11p15 together with the genes for insulin, c-Harvey-ras 1, and beta hemoglobin. Cytogenet Cell Genet 39:200–205

    Google Scholar 

  • Zelle B, Geurts van Kessel A, de Wit J, Evers P, Arwert F, Pronk JC, Mager WH, Planta RJ, Eriksson AW, Frants RR (1985) Assignment of human pepsinogen A locus to the q12-pter region of chromosome 11. Hum Genet 70:337–340

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Mannens, M., Slater, R.M., Heyting, C. et al. Regional localization of DNA probes on the short arm of chromosome 11 using aniridia-Wilms' tumor-associated deletions. Hum Genet 75, 180–187 (1987). https://doi.org/10.1007/BF00591083

Download citation

  • Received:

  • Revised:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00591083

Keywords

Navigation