{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T00:30:02Z","timestamp":1772929802369,"version":"3.50.1"},"reference-count":35,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2002,3,1]],"date-time":"2002-03-01T00:00:00Z","timestamp":1014940800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2002,3,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Primary ciliary dyskinesia (PCD) is a heterogeneous congenital disorder characterized by bronchiectasis and chronic sinusitis, sometimes associated with situs inversus (i.e., Kartagener's syndrome) and male infertility. At the cell level, the disease phenotype includes various axonemal abnormalities of respiratory cilia and sperm flagella. We have previously isolated DNAI1, the first gene involved in these diseases in patients lacking outer dynein arms. In this study, designed to find additional genes for other axonemal defects, we report the isolation of a novel human gene, hPF20, which is orthologous to Chlamydomonas pf20. The hPF20 gene is expressed as two major transcripts: one is expressed in testis only, whereas the second is weakly expressed in many other tissues. As flagella of Chlamydomonas strains carrying pf20 mutations lack the axonemal central complexes, we tested the involvement of the hPF20 gene in the disease phenotype of five patients in whom cilia or flagella display abnormal central complexes. Five intragenic polymorphisms were identified and used to exclude hPF20 in two consanguineous patients, while no mutation was found in the remaining patients. However, given the genetic heterogeneity of PCD, we consider that this gene remains a good candidate to be investigated in patients with abnormal central complexes.<\/jats:p>","DOI":"10.1165\/ajrcmb.26.3.4738","type":"journal-article","created":{"date-parts":[[2013,4,3]],"date-time":"2013-04-03T21:09:15Z","timestamp":1365023355000},"page":"362-370","source":"Crossref","is-referenced-by-count":30,"title":["Isolation and Expression of the Human\n                    <i>hPF20<\/i>\n                    Gene Orthologous to\n                    <i>Chlamydomonas pf20<\/i>"],"prefix":"10.1093","volume":"26","author":[{"given":"Ga\u00eblle","family":"Pennarun","sequence":"first","affiliation":[{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale U468, and U492, H\u00f4pital Henri Mondor, Cr\u00e9teil; and Unit\u00e9 Fonctionnelle de Biologie de la Reproduction, D\u00e9partement de G\u00e9n\u00e9tique, Cytog\u00e9n\u00e9tique et Embryologie, Groupe Hospitalier Piti\u00e9-Salp\u00eatri\u00e8re (AP-HP), Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne-Marie","family":"Bridoux","sequence":"additional","affiliation":[{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale U468, and U492, H\u00f4pital Henri Mondor, Cr\u00e9teil; and Unit\u00e9 Fonctionnelle de Biologie de la Reproduction, D\u00e9partement de G\u00e9n\u00e9tique, Cytog\u00e9n\u00e9tique et Embryologie, Groupe Hospitalier Piti\u00e9-Salp\u00eatri\u00e8re (AP-HP), Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Estelle","family":"Escudier","sequence":"additional","affiliation":[{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale U468, and U492, H\u00f4pital Henri Mondor, Cr\u00e9teil; and Unit\u00e9 Fonctionnelle de Biologie de la Reproduction, D\u00e9partement de G\u00e9n\u00e9tique, Cytog\u00e9n\u00e9tique et Embryologie, Groupe Hospitalier Piti\u00e9-Salp\u00eatri\u00e8re (AP-HP), Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Florence","family":"Dastot-Le Moal","sequence":"additional","affiliation":[{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale U468, and U492, H\u00f4pital Henri Mondor, Cr\u00e9teil; and Unit\u00e9 Fonctionnelle de Biologie de la Reproduction, D\u00e9partement de G\u00e9n\u00e9tique, Cytog\u00e9n\u00e9tique et Embryologie, Groupe Hospitalier Piti\u00e9-Salp\u00eatri\u00e8re (AP-HP), Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Val\u00e8re","family":"Cacheux","sequence":"additional","affiliation":[{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale U468, and U492, H\u00f4pital Henri Mondor, Cr\u00e9teil; and Unit\u00e9 Fonctionnelle de Biologie de la Reproduction, D\u00e9partement de G\u00e9n\u00e9tique, Cytog\u00e9n\u00e9tique et Embryologie, Groupe Hospitalier Piti\u00e9-Salp\u00eatri\u00e8re (AP-HP), Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serge","family":"Amselem","sequence":"additional","affiliation":[{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale U468, and U492, H\u00f4pital Henri Mondor, Cr\u00e9teil; and Unit\u00e9 Fonctionnelle de Biologie de la Reproduction, D\u00e9partement de G\u00e9n\u00e9tique, Cytog\u00e9n\u00e9tique et Embryologie, Groupe Hospitalier Piti\u00e9-Salp\u00eatri\u00e8re (AP-HP), Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B\u00e9n\u00e9dicte","family":"Duriez","sequence":"additional","affiliation":[{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale U468, and U492, H\u00f4pital Henri Mondor, Cr\u00e9teil; and Unit\u00e9 Fonctionnelle de Biologie de la Reproduction, D\u00e9partement de G\u00e9n\u00e9tique, Cytog\u00e9n\u00e9tique et Embryologie, Groupe Hospitalier Piti\u00e9-Salp\u00eatri\u00e8re (AP-HP), Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2002,3,1]]},"reference":[{"key":"2026030623575158200_B1","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1016\/0955-0674(92)90061-G","article-title":"Axonemal dyneins.","volume":"4","author":"Witman","year":"1992","journal-title":"Curr. Opin. Cell Biol."},{"key":"2026030623575158200_B2","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1038\/31520","article-title":"Dynein arms are oscillating force generators.","volume":"393","author":"Shingyoji","year":"1998","journal-title":"Nature"},{"key":"2026030623575158200_B3","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1016\/S0955-0674(96)80042-1","article-title":"Axonemal dyneins: assembly, organization, and regulation.","volume":"8","author":"Porter","year":"1996","journal-title":"Curr. Opin. Cell Biol."},{"key":"2026030623575158200_B4","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/(SICI)1097-0169(1997)38:1<1::AID-CM1>3.0.CO;2-C","article-title":"The role of central apparatus components in flagellar motility and microtubule assembly.","volume":"38","author":"Smith","year":"1997","journal-title":"Cell Motil. Cytoskeleton"},{"key":"2026030623575158200_B5","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1126\/science.1084576","article-title":"A human syndrome caused by immotile cilia.","volume":"193","author":"Afzelius","year":"1976","journal-title":"Science"},{"key":"2026030623575158200_B6","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1378\/chest.78.4.580","article-title":"The dyskinetic cilia syndrome: ciliary motility in immotile cilia syndrome.","volume":"78","author":"Rossman","year":"1980","journal-title":"Chest"},{"key":"2026030623575158200_B7","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1111\/j.1768-322X.1984.tb00253.x","article-title":"Pathology of the cytoskeleton of the human sperm flagellum: axonemal and peri-axonemal anomalies.","volume":"50","author":"Escalier","year":"1984","journal-title":"Biol. Cell"},{"key":"2026030623575158200_B8","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/S0022-5320(79)80041-6","article-title":"Flagellar mutants in man: on the heterogeneity of the immotile-cilia syndrome.","volume":"69","author":"Afzelius","year":"1979","journal-title":"J. Ultrastruct. Res."},{"key":"2026030623575158200_B9","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1002\/ajmg.1320250117","article-title":"Genetic aspects of immotile cilia syndrome.","volume":"25","author":"Sturgess","year":"1986","journal-title":"Am. J. Med. Genet."},{"key":"2026030623575158200_B10","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1083\/jcb.113.4.835","article-title":"Identification of oda6 as a Chlamydomonas dynein mutant by rescue with the wild-type gene.","volume":"113","author":"Mitchell","year":"1991","journal-title":"J. Cell Biol."},{"key":"2026030623575158200_B11","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1083\/jcb.113.3.615","article-title":"A Chlamydomonas outer arm dynein mutant missing the alpha heavy chain.","volume":"113","author":"Sakakibara","year":"1991","journal-title":"J. Cell Biol."},{"key":"2026030623575158200_B12","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1083\/jcb.122.3.653","article-title":"A Chlamydomonas outer arm dynein mutant with a truncated beta heavy chain.","volume":"122","author":"Sakakibara","year":"1993","journal-title":"J. Cell Biol."},{"key":"2026030623575158200_B13","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1083\/jcb.129.1.169","article-title":"The 78,000 M(r) intermediate chain of Chlamydomonas outer arm dynein is a WD-repeat protein required for arm assembly.","volume":"129","author":"Wilkerson","year":"1995","journal-title":"J. Cell Biol."},{"key":"2026030623575158200_B14","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1091\/mbc.6.6.713","article-title":"ida4\u20131, ida4\u20132, and ida4\u20133 are intron splicing mutations affecting the locus encoding p28, a light chain of Chlamydomonas axonemal inner dynein arms.","volume":"6","author":"LeDizet","year":"1995","journal-title":"Mol. Biol. Cell"},{"key":"2026030623575158200_B15","doi-asserted-by":"crossref","first-page":"1853","DOI":"10.1083\/jcb.135.6.1853","article-title":"The sup-pf-2 mutations of Chlamydomonas alter the activity of the outer dynein arms by modification of the gamma-dynein heavy chain.","volume":"135","author":"Rupp","year":"1996","journal-title":"J. Cell Biol."},{"key":"2026030623575158200_B16","doi-asserted-by":"crossref","first-page":"3351","DOI":"10.1091\/mbc.9.12.3351","article-title":"The Chlamydomonas IDA7 locus encodes a 140-kDa dynein intermediate chain required to assemble the I1 inner arm complex.","volume":"9","author":"Perrone","year":"1998","journal-title":"Mol. Biol. Cell"},{"key":"2026030623575158200_B17","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1091\/mbc.8.4.607","article-title":"The Chlamydomonas Dhc1 gene encodes a dynein heavy chain subunit required for assembly of the I1 inner arm complex.","volume":"8","author":"Myster","year":"1997","journal-title":"Mol. Biol. Cell"},{"key":"2026030623575158200_B18","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1083\/jcb.146.4.801","article-title":"Domains in the 1alpha dynein heavy chain required for inner arm assembly and flagellar motility in Chlamydomonas.","volume":"146","author":"Myster","year":"1999","journal-title":"J. Cell Biol."},{"key":"2026030623575158200_B19","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1016\/S0014-5793(97)00800-4","article-title":"Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment.","volume":"412","author":"Chapelin","year":"1997","journal-title":"FEBS Lett."},{"key":"2026030623575158200_B20","doi-asserted-by":"crossref","first-page":"1508","DOI":"10.1086\/302683","article-title":"Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.","volume":"65","author":"Pennarun","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"2026030623575158200_B21","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1007\/s004390000427","article-title":"The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia.","volume":"107","author":"Pennarun","year":"2000","journal-title":"Hum. Genet."},{"key":"2026030623575158200_B22","doi-asserted-by":"crossref","first-page":"1030","DOI":"10.1086\/319511","article-title":"Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (kartagener syndrome).","volume":"68","author":"Guichard","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"2026030623575158200_B23","first-page":"A98","article-title":"The DNAH11 (Axonemal heavy chain dynein 11) gene is mutated in one form of Primary Ciliary Dyskinesia.","volume":"67","author":"Bartoloni","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"2026030623575158200_B24","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1091\/mbc.8.3.455","article-title":"PF20 gene product contains WD repeats and localizes to the intermicrotubule bridges in Chlamydomonas flagella.","volume":"8","author":"Smith","year":"1997","journal-title":"Mol. Biol. Cell"},{"key":"2026030623575158200_B25","first-page":"271","article-title":"Abnormalities of the ciliary axonemal complex in children: an ultrastructural and kinetic study in a series of 34 cases.","volume":"44","author":"Escalier","year":"1982","journal-title":"Biol. Cell"},{"key":"2026030623575158200_B26","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1164\/ajrccm\/142.3.674","article-title":"Dissimilar expression of axonemal anomalies in respiratory cilia and sperm flagella in infertile men.","volume":"142","author":"Escudier","year":"1990","journal-title":"Am. Rev. Respir. Dis."},{"key":"2026030623575158200_B27","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1159\/000133277","article-title":"A simple method for simultaneous R- or G-banding and fluorescence in situ hybridization of small single-copy genes.","volume":"59","author":"Lemieux","year":"1992","journal-title":"Cytogenet. Cell Genet."},{"key":"2026030623575158200_B28","doi-asserted-by":"crossref","first-page":"2934","DOI":"10.1073\/pnas.83.9.2934","article-title":"Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization.","volume":"83","author":"Pinkel","year":"1986","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"2026030623575158200_B29","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1007\/s003359900171","article-title":"Interpreting cDNA sequences: some insights from studies on translation.","volume":"7","author":"Kozak","year":"1996","journal-title":"Mamm. Genome"},{"key":"2026030623575158200_B30","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1038\/371297a0","article-title":"The ancient regulatory-protein family of WD-repeat proteins.","volume":"371","author":"Neer","year":"1994","journal-title":"Nature"},{"key":"2026030623575158200_B31","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/S0968-0004(99)01384-5","article-title":"The WD repeat: a common architecture for diverse functions.","volume":"24","author":"Smith","year":"1999","journal-title":"Trends Biochem. Sci."},{"key":"2026030623575158200_B32","doi-asserted-by":"crossref","first-page":"63","DOI":"10.3109\/10409238509086788","article-title":"The immotile-cilia syndrome: a microtubule-associated defect.","volume":"19","author":"Afzelius","year":"1985","journal-title":"CRC Crit. Rev. Biochem."},{"key":"2026030623575158200_B33","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1038\/sj.ejhg.5200429","article-title":"Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity.","volume":"8","author":"Blouin","year":"2000","journal-title":"Eur. J. Hum. Genet."},{"key":"2026030623575158200_B34","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1136\/jmg.37.4.241","article-title":"A locus for primary ciliary dyskinesia maps to chromosome 19q.","volume":"37","author":"Meeks","year":"2000","journal-title":"J. Med. Genet."},{"key":"2026030623575158200_B35","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1165\/ajrcmb.23.5.4257","article-title":"Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene.","volume":"23","author":"Omran","year":"2000","journal-title":"Am. J. Respir. Cell Mol. Biol."}],"container-title":["American Journal of Respiratory Cell and Molecular Biology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/ajrcmb\/article-pdf\/26\/3\/362\/67180085\/ajrcmb_26_3_362.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/ajrcmb\/article-pdf\/26\/3\/362\/67180085\/ajrcmb_26_3_362.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,7]],"date-time":"2026-03-07T05:10:18Z","timestamp":1772860218000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ajrcmb\/article\/26\/3\/362\/8501835"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,3,1]]},"references-count":35,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2002,3,1]]},"published-print":{"date-parts":[[2002,3,1]]}},"URL":"https:\/\/doi.org\/10.1165\/ajrcmb.26.3.4738","relation":{},"ISSN":["1044-1549","1535-4989"],"issn-type":[{"value":"1044-1549","type":"print"},{"value":"1535-4989","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2002,3]]},"published":{"date-parts":[[2002,3,1]]}}}