Abstract
A contiguous high-resolution NotI restriction map of the distal region of the long arm of human chromosome 21 was constructed by three strategies: linking clones to identify adjacent pieces of DNA, partial digestion to identify neighboring fragments, and cell line polymorphisms to prove identity or adjacency of DNA fragments. Twenty-nine single-copy DNA probes and five linking clone probes were used to determine the order of 30 Not I fragments, covering 10 megabases of DNA in band q22.3. Smaller Not I fragments occur preferentially in this region, suggesting that band q22.3 is unusually rich in genes, since Not I sites occur almost exclusively in CpG islands. Comparison of the physical map and genetic maps in this region reveals a 10-fold higher than average recombination frequency.
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- Burmeister M., Kim S., Price E. R., de Lange T., Tantravahi U., Myers R. M., Cox D. R. A map of the distal region of the long arm of human chromosome 21 constructed by radiation hybrid mapping and pulsed-field gel electrophoresis. Genomics. 1991 Jan;9(1):19–30. doi: 10.1016/0888-7543(91)90216-2. [DOI] [PubMed] [Google Scholar]
- Carpenter N. J., Mayes J. S., Say B., Wilson D. P. Partial deletion 21: case report with biochemical studies and review. J Med Genet. 1987 Nov;24(11):706–709. doi: 10.1136/jmg.24.11.706. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Cheng J. F., Smith C. L., Cantor C. R. Isolation and characterization of a human telomere. Nucleic Acids Res. 1989 Aug 11;17(15):6109–6127. doi: 10.1093/nar/17.15.6109. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Chu M. L., Mann K., Deutzmann R., Pribula-Conway D., Hsu-Chen C. C., Bernard M. P., Timpl R. Characterization of three constituent chains of collagen type VI by peptide sequences and cDNA clones. Eur J Biochem. 1987 Oct 15;168(2):309–317. doi: 10.1111/j.1432-1033.1987.tb13422.x. [DOI] [PubMed] [Google Scholar]
- Cox D. R., Burmeister M., Price E. R., Kim S., Myers R. M. Radiation hybrid mapping: a somatic cell genetic method for constructing high-resolution maps of mammalian chromosomes. Science. 1990 Oct 12;250(4978):245–250. doi: 10.1126/science.2218528. [DOI] [PubMed] [Google Scholar]
- Cox D. R., Epstein C. J. Comparative gene mapping of human chromosome 21 and mouse chromosome 16. Ann N Y Acad Sci. 1985;450:169–177. doi: 10.1111/j.1749-6632.1985.tb21491.x. [DOI] [PubMed] [Google Scholar]
- Francke U., Ochs H. D., de Martinville B., Giacalone J., Lindgren V., Distèche C., Pagon R. A., Hofker M. H., van Ommen G. J., Pearson P. L. Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. Am J Hum Genet. 1985 Mar;37(2):250–267. [PMC free article] [PubMed] [Google Scholar]
- Gardiner K., Horisberger M., Kraus J., Tantravahi U., Korenberg J., Rao V., Reddy S., Patterson D. Analysis of human chromosome 21: correlation of physical and cytogenetic maps; gene and CpG island distributions. EMBO J. 1990 Jan;9(1):25–34. doi: 10.1002/j.1460-2075.1990.tb08076.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Gladstone P., Fueresz L., Pious D. Gene dosage and gene expression in the HLA region: evidence from deletion variants. Proc Natl Acad Sci U S A. 1982 Feb;79(4):1235–1239. doi: 10.1073/pnas.79.4.1235. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Goate A. M., Haynes A. R., Owen M. J., Farrall M., James L. A., Lai L. Y., Mullan M. J., Roques P., Rossor M. N., Williamson R. Predisposing locus for Alzheimer's disease on chromosome 21. Lancet. 1989 Feb 18;1(8634):352–355. doi: 10.1016/s0140-6736(89)91725-x. [DOI] [PubMed] [Google Scholar]
- Goate A., Chartier-Harlin M. C., Mullan M., Brown J., Crawford F., Fidani L., Giuffra L., Haynes A., Irving N., James L. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature. 1991 Feb 21;349(6311):704–706. doi: 10.1038/349704a0. [DOI] [PubMed] [Google Scholar]
- Ichikawa H., Shimizu K., Saito A., Wang D. N., Oliva R., Kobayashi H., Kaneko Y., Miyoshi H., Smith C. L., Cantor C. R. Long-distance restriction mapping of the proximal long arm of human chromosome 21 with Not I linking clones. Proc Natl Acad Sci U S A. 1992 Jan 1;89(1):23–27. doi: 10.1073/pnas.89.1.23. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Jacobs L., Demars R. Quantification of chemical mutagenesis in diploid human fibroblasts: induction of azaguanine-resistant mutants by N-methyl-N'-nitro-N-nitrosoguanidine. Mutat Res. 1978 Feb;53(1):29–53. doi: 10.1016/0165-1161(78)90377-1. [DOI] [PubMed] [Google Scholar]
- King C. R., Shinohara T., Piatigorsky J. alpha A-crystallin messenger RNA of the mouse lens: more noncoding than coding sequences. Science. 1982 Feb 19;215(4535):985–987. doi: 10.1126/science.7156978. [DOI] [PubMed] [Google Scholar]
- Kishimoto T. K., O'Connor K., Lee A., Roberts T. M., Springer T. A. Cloning of the beta subunit of the leukocyte adhesion proteins: homology to an extracellular matrix receptor defines a novel supergene family. Cell. 1987 Feb 27;48(4):681–690. doi: 10.1016/0092-8674(87)90246-7. [DOI] [PubMed] [Google Scholar]
- Kohl N. E., Kanda N., Schreck R. R., Bruns G., Latt S. A., Gilbert F., Alt F. W. Transposition and amplification of oncogene-related sequences in human neuroblastomas. Cell. 1983 Dec;35(2 Pt 1):359–367. doi: 10.1016/0092-8674(83)90169-1. [DOI] [PubMed] [Google Scholar]
- Korenberg J. R., Croyle M. L., Cox D. R. Isolation and regional mapping of DNA sequences unique to human chromosome 21. Am J Hum Genet. 1987 Dec;41(6):963–978. [PMC free article] [PubMed] [Google Scholar]
- LEJEUNE J., GAUTIER M., TURPIN R. Etude des chromosomes somatiques de neuf enfants mongoliens. C R Hebd Seances Acad Sci. 1959 Mar 16;248(11):1721–1722. [PubMed] [Google Scholar]
- Landsman D., McBride O. W., Soares N., Crippa M. P., Srikantha T., Bustin M. Chromosomal protein HMG-14. Identification, characterization, and chromosome localization of a functional gene from the large human multigene family. J Biol Chem. 1989 Feb 25;264(6):3421–3427. [PubMed] [Google Scholar]
- Lehesjoki A. E., Koskiniemi M., Sistonen P., Miao J., Hästbacka J., Norio R., de la Chapelle A. Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22. Proc Natl Acad Sci U S A. 1991 May 1;88(9):3696–3699. doi: 10.1073/pnas.88.9.3696. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Levanon D., Danciger E., Dafni N., Groner Y. Construction of a cDNA clone containing the entire coding region of the human liver-type phosphofructokinase. Biochem Biophys Res Commun. 1987 Sep 30;147(3):1182–1187. doi: 10.1016/s0006-291x(87)80194-8. [DOI] [PubMed] [Google Scholar]
- Lugo T. G., Handelin B., Killary A. M., Housman D. E., Fournier R. E. Isolation of microcell hybrid clones containing retroviral vector insertions into specific human chromosomes. Mol Cell Biol. 1987 Aug;7(8):2814–2820. doi: 10.1128/mcb.7.8.2814. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Millington-Ward A. M., Pearson P. L. Use of restriction fragment length polymorphic probes in the analysis of Down's syndrome trisomy. Hum Genet. 1988 Dec;80(4):362–370. doi: 10.1007/BF00273652. [DOI] [PubMed] [Google Scholar]
- Moore E. E., Jones C., Kao F. T., Oates D. C. Synteny between glycinamide ribonucleotide synthetase and superoxide dismutase (soluble). Am J Hum Genet. 1977 Jul;29(4):389–396. [PMC free article] [PubMed] [Google Scholar]
- Münke M., Kraus J. P., Ohura T., Francke U. The gene for cystathionine beta-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17. Am J Hum Genet. 1988 Apr;42(4):550–559. [PMC free article] [PubMed] [Google Scholar]
- Nakamura Y., Carlson M., Krapcho K., Ballard L., Leppert M., O'Connell P., Lathrop G. M., Lalouel J. M., White R. Isolation and mapping of a polymorphic DNA sequence (pMCT15) on chromosome 21 [D21S113]. Nucleic Acids Res. 1988 Oct 25;16(20):9882–9882. doi: 10.1093/nar/16.20.9882. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Patterson D. Genetic mapping in chromosome 21 and its implications for Down's syndrome and other diseases. Somat Cell Mol Genet. 1987 Jul;13(4):365–372. doi: 10.1007/BF01534933. [DOI] [PubMed] [Google Scholar]
- Patterson D., Graw S., Jones C. Demonstration, by somatic cell genetics, of coordinate regulation of genes for two enzymes of purine synthesis assigned to human chromosome 21. Proc Natl Acad Sci U S A. 1981 Jan;78(1):405–409. doi: 10.1073/pnas.78.1.405. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Petersen M. B., Slaugenhaupt S. A., Lewis J. G., Warren A. C., Chakravarti A., Antonarakis S. E. A genetic linkage map of 27 markers on human chromosome 21. Genomics. 1991 Mar;9(3):407–419. doi: 10.1016/0888-7543(91)90406-5. [DOI] [PubMed] [Google Scholar]
- Puck T. T., Kao F. T. Somatic cell genetics and its application to medicine. Annu Rev Genet. 1982;16:225–271. doi: 10.1146/annurev.ge.16.120182.001301. [DOI] [PubMed] [Google Scholar]
- Saito A., Abad J. P., Wang D. N., Ohki M., Cantor C. R., Smith C. L. Construction and characterization of a NotI linking library of human chromosome 21. Genomics. 1991 Jul;10(3):618–630. doi: 10.1016/0888-7543(91)90444-j. [DOI] [PubMed] [Google Scholar]
- Schwartz D. C., Cantor C. R. Separation of yeast chromosome-sized DNAs by pulsed field gradient gel electrophoresis. Cell. 1984 May;37(1):67–75. doi: 10.1016/0092-8674(84)90301-5. [DOI] [PubMed] [Google Scholar]
- Schwartz D. C., Saffran W., Welsh J., Haas R., Goldenberg M., Cantor C. R. New techniques for purifying large DNAs and studying their properties and packaging. Cold Spring Harb Symp Quant Biol. 1983;47(Pt 1):189–195. doi: 10.1101/sqb.1983.047.01.024. [DOI] [PubMed] [Google Scholar]
- Slate D. L., Shulman L., Lawrence J. B., Revel M., Ruddle F. H. Presence of human chromosome 21 alone is sufficient for hybrid cell sensitivity to human interferon. J Virol. 1978 Jan;25(1):319–325. doi: 10.1128/jvi.25.1.319-325.1978. [DOI] [PMC free article] [PubMed] [Google Scholar]
- St George-Hyslop P. H., Tanzi R. E., Polinsky R. J., Haines J. L., Nee L., Watkins P. C., Myers R. H., Feldman R. G., Pollen D., Drachman D. The genetic defect causing familial Alzheimer's disease maps on chromosome 21. Science. 1987 Feb 20;235(4791):885–890. doi: 10.1126/science.2880399. [DOI] [PubMed] [Google Scholar]
- Stewart G. D., Harris P., Galt J., Ferguson-Smith M. A. Cloned DNA probes regionally mapped to human chromosome 21 and their use in determining the origin of nondisjunction. Nucleic Acids Res. 1985 Jun 11;13(11):4125–4132. doi: 10.1093/nar/13.11.4125. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Stewart G. D., Tanzi R. E., Gusella J. F. RFLPS at the D21S19 locus of human chromosome 21. Nucleic Acids Res. 1985 Oct 11;13(19):7168–7168. doi: 10.1093/nar/13.19.7168. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Tantravahi U., Stewart G. D., Van Keuren M., McNeil G., Roy S., Patterson D., Drabkin H., Lalande M., Kurnit D. M., Latt S. A. Isolation of DNA sequences on human chromosome 21 by application of a recombination-based assay to DNA from flow-sorted chromosomes. Hum Genet. 1988 Jul;79(3):196–202. doi: 10.1007/BF00366237. [DOI] [PubMed] [Google Scholar]
- Tanzi R. E., Haines J. L., Watkins P. C., Stewart G. D., Wallace M. R., Hallewell R., Wong C., Wexler N. S., Conneally P. M., Gusella J. F. Genetic linkage map of human chromosome 21. Genomics. 1988 Aug;3(2):129–136. doi: 10.1016/0888-7543(88)90143-7. [DOI] [PubMed] [Google Scholar]
- Warren A. C., Slaugenhaupt S. A., Lewis J. G., Chakravarti A., Antonarakis S. E. A genetic linkage map of 17 markers on human chromosome 21. Genomics. 1989 May;4(4):579–591. doi: 10.1016/0888-7543(89)90282-6. [DOI] [PubMed] [Google Scholar]
- Watkins P. C., Tanzi R. E., Gibbons K. T., Tricoli J. V., Landes G., Eddy R., Shows T. B., Gusella J. F. Isolation of polymorphic DNA segments from human chromosome 21. Nucleic Acids Res. 1985 Sep 11;13(17):6075–6088. doi: 10.1093/nar/13.17.6075. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Watson D. K., McWilliams-Smith M. J., Nunn M. F., Duesberg P. H., O'Brien S. J., Papas T. S. The ets sequence from the transforming gene of avian erythroblastosis virus, E26, has unique domains on human chromosomes 11 and 21: both loci are transcriptionally active. Proc Natl Acad Sci U S A. 1985 Nov;82(21):7294–7298. doi: 10.1073/pnas.82.21.7294. [DOI] [PMC free article] [PubMed] [Google Scholar]