{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T09:36:46Z","timestamp":1790501806709,"version":"4.1.0"},"reference-count":38,"publisher":"Cold Spring Harbor Laboratory","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genome Res."],"published-print":{"date-parts":[[1997,8,1]]},"abstract":"<jats:p>Autoimmune\u2013polyendocrinopathy\u2013candidiasis\u2013ectodermal dystrophy (APECED, PGD type I) is an autosomal recessive disease enriched in the Finnish population. Previously, we have assigned <jats:italic>APECED<\/jats:italic> to a 2.6-cM interval on chromosome 21q22.3 by linkage analysis in 14 Finnish families. This subtelomeric region of 21q22.3 seems to have sequence features resulting in its under-representation in large insert genomic libraries, and only a few large insert clones have been available for positional cloning to date. Here, we report the refined localization of the <jats:italic>APECED<\/jats:italic> gene and a visual physical map of 800 kb covering the critical chromosomal region for the gene. In the construction of the physical map, the recently developed fiber FISH techniques were essential for the orientation of the cosmid P1, PAC, and BAC clones in relation to each other. We also localized two cDNAs within this genomic region by fiber FISH combined with the highly sensitive tyramide-based detection method. These data will facilitate the final cloning of the<jats:italic>APECED<\/jats:italic> gene and any other novel gene in this complex genomic region.<\/jats:p><jats:p>[On-line supplement for primer sequences, PCR product size, and annealing temperatures is available at<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"http:\/\/www.cshl.org\/gr\" ext-link-type=\"uri\" xlink:type=\"simple\">http:\/\/www.cshl.org\/gr<\/jats:ext-link>.]<\/jats:p>","DOI":"10.1101\/gr.7.8.820","type":"journal-article","created":{"date-parts":[[2017,5,3]],"date-time":"2017-05-03T00:27:15Z","timestamp":1493771235000},"page":"820-829","source":"Crossref","is-referenced-by-count":44,"title":["High-Resolution Physical and Transcriptional Mapping of the Autoimmune Polyendocrinopathy\u2013Candidiasis\u2013Ectodermal Dystrophy Locus on Chromosome 21q22.3 by\u2009FISH"],"prefix":"10.1101","volume":"7","author":[{"given":"Johanna","family":"Aaltonen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nina","family":"Horelli-Kuitunen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian-Bing","family":"Fan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petra","family":"Bj\u00f6rses","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaakko","family":"Perheentupa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Myers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aarno","family":"Palotie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leena","family":"Peltonen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"246","published-online":{"date-parts":[[1997,8,1]]},"reference":[{"key":"2021111810270562000_7.8.820.1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0994-83"},{"key":"2021111810270562000_7.8.820.2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199006283222601"},{"key":"2021111810270562000_7.8.820.3","doi-asserted-by":"publisher","DOI":"10.1006\/jmbi.1990.9999"},{"key":"2021111810270562000_7.8.820.4","first-page":"879","article-title":"Genetic homogeneity of autoimmune polyglandular disease type I.","volume":"59","author":"Bj\u00f6rses","year":"1996","journal-title":"Am. J. Hum. Genet."},{"key":"2021111810270562000_7.8.820.5","doi-asserted-by":"publisher","DOI":"10.1038\/359380a0"},{"key":"2021111810270562000_7.8.820.6","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.5.831"},{"key":"2021111810270562000_7.8.820.7","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-9525(97)81400-X"},{"key":"2021111810270562000_7.8.820.8","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1995.0035"},{"key":"2021111810270562000_7.8.820.9","doi-asserted-by":"publisher","DOI":"10.1038\/ng1192-204"},{"key":"2021111810270562000_7.8.820.10","first-page":"928","article-title":"High resolution mapping using fluorescence In Situ hybridization to extended DNA fibers prepared from agarose-embedded cells.","volume":"17","author":"Heiskanen","year":"1994","journal-title":"Biotechniques"},{"key":"2021111810270562000_7.8.820.11","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1995.0005"},{"key":"2021111810270562000_7.8.820.12","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1016\/0168-9525(96)30083-8","article-title":"Visual mapping by high resolution FISH.","volume":"10","author":"Heiskanen","year":"1996","journal-title":"Trends Genet."},{"key":"2021111810270562000_7.8.820.13","doi-asserted-by":"publisher","DOI":"10.1038\/ng0893-361"},{"key":"2021111810270562000_7.8.820.14","doi-asserted-by":"publisher","DOI":"10.1038\/ng0194-84"},{"key":"2021111810270562000_7.8.820.15","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1006\/geno.1996.0324","article-title":"Efficient construction of a physical map by fiber-FISH of the CLN5 region: refined assignment and long-range contig covering the critical region on 13q22.","volume":"32","author":"Klockars","year":"1996","journal-title":"Genomics"},{"key":"2021111810270562000_7.8.820.16","doi-asserted-by":"publisher","DOI":"10.1101\/gr.5.5.427"},{"key":"2021111810270562000_7.8.820.17","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.0019"},{"key":"2021111810270562000_7.8.820.18","doi-asserted-by":"publisher","DOI":"10.1101\/gr.5.1.13"},{"key":"2021111810270562000_7.8.820.19","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1995.1248"},{"key":"2021111810270562000_7.8.820.20","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1101\/gr.1.2.111","article-title":"Capture PCR: efficient amplification of DNA fragments adjacent to a known sequence in human and YAC DNA.","volume":"1","author":"Lagerstr\u00f6m","year":"1991","journal-title":"PCR Methods Appl."},{"key":"2021111810270562000_7.8.820.21","doi-asserted-by":"publisher","DOI":"10.1159\/000133277"},{"key":"2021111810270562000_7.8.820.22","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.0521"},{"key":"2021111810270562000_7.8.820.23","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.85.24.9664"},{"key":"2021111810270562000_7.8.820.24","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.5.759"},{"key":"2021111810270562000_7.8.820.25","first-page":"697","article-title":"Messages from an isolate: lessons from the Finnish gene pool.","volume":"376","author":"Peltonen","year":"1995","journal-title":"Biol. Chem. Hoppe-Seyler"},{"key":"2021111810270562000_7.8.820.26","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.83.9.2934"},{"key":"2021111810270562000_7.8.820.27","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.4.529"},{"key":"2021111810270562000_7.8.820.28","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.6.843"},{"key":"2021111810270562000_7.8.820.29","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.91.7.2629"},{"key":"2021111810270562000_7.8.820.30","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.89.18.8794"},{"key":"2021111810270562000_7.8.820.31","doi-asserted-by":"publisher","DOI":"10.1016\/0022-2836(75)90217-X"},{"key":"2021111810270562000_7.8.820.32","doi-asserted-by":"publisher","DOI":"10.1101\/gr.6.3.218"},{"key":"2021111810270562000_7.8.820.33","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1007\/BF00205165","article-title":"R-banding and nonisotopic in situ hybridization: Precise localization of human type II collagen gene (COL2A1).","volume":"86","author":"Takahashi","year":"1990","journal-title":"Hum. Genet."},{"key":"2021111810270562000_7.8.820.34","first-page":"777","article-title":"A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci.","volume":"56","author":"Terwilliger","year":"1995","journal-title":"Am. J. Hum. Genet."},{"key":"2021111810270562000_7.8.820.35","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.21.3.164"},{"key":"2021111810270562000_7.8.820.36","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1177\/44.4.8601698","article-title":"Improved localization of fluorescent tyramides for fluorescent in situ hybridization using dextran sulphate and polyvinyl alcohol.","volume":"4","author":"van Gijlwijk","year":"1996","journal-title":"J. Histochem. Cytochem."},{"key":"2021111810270562000_7.8.820.37","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.8.1291"},{"key":"2021111810270562000_7.8.820.38","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.11.824"}],"container-title":["Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1101\/gr.7.8.820","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,11,18]],"date-time":"2021-11-18T18:35:49Z","timestamp":1637260549000},"score":1,"resource":{"primary":{"URL":"http:\/\/genome.cshlp.org\/lookup\/doi\/10.1101\/gr.7.8.820"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,8,1]]},"references-count":38,"journal-issue":{"issue":"8","published-print":{"date-parts":[[1997,8,1]]}},"alternative-id":["10.1101\/gr.7.8.820"],"URL":"https:\/\/doi.org\/10.1101\/gr.7.8.820","relation":{},"ISSN":["1088-9051","1549-5469"],"issn-type":[{"value":"1088-9051","type":"print"},{"value":"1549-5469","type":"electronic"}],"subject":[],"published":{"date-parts":[[1997,8,1]]}}}