{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T13:29:58Z","timestamp":1791379798718,"version":"4.3.3"},"reference-count":68,"publisher":"National Academy of Sciences","issue":"48","license":[{"start":{"date-parts":[[2020,11,16]],"date-time":"2020-11-16T00:00:00Z","timestamp":1605484800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001711","name":"Schweizerischer Nationalfonds zur F\u00f6rderung der Wissenschaftlichen Forschung","doi-asserted-by":"publisher","award":["310030B_138662"],"award-info":[{"award-number":["310030B_138662"]}],"id":[{"id":"10.13039\/501100001711","id-type":"DOI","asserted-by":"publisher"}]},{"name":"ERC","award":["588029"],"award-info":[{"award-number":["588029"]}]},{"name":"Spanish ministre of science and innovation","award":["BFU2017-88265-P"],"award-info":[{"award-number":["BFU2017-88265-P"]}]}],"content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Significance<\/jats:title>\n                  <jats:p>\n                    In this study, we report a unique and necessary function for the\n                    <jats:italic>HoxC<\/jats:italic>\n                    gene cluster in the development of some ectodermal organs, as illustrated both by the hair and nail phenotype displayed by mice lacking the\n                    <jats:italic>Hoxc13<\/jats:italic>\n                    function and by the congenital anonychia (absence of nails) in full\n                    <jats:italic>HoxC<\/jats:italic>\n                    cluster mutants. We show that\n                    <jats:italic>Hoxc<\/jats:italic>\n                    genes are activated in a colinear manner in the embryonic limb ectoderm and are subsequently transcribed in developing nails and hairs. We identify two mammalian-specific enhancers located upstream of the\n                    <jats:italic>HoxC<\/jats:italic>\n                    cluster, which display an exclusive ectodermal specificity. Individual or combined enhancer deletions suggest that they act in combination to raise the transcription level of several\n                    <jats:italic>Hoxc<\/jats:italic>\n                    genes during hair and nail development.\n                  <\/jats:p>","DOI":"10.1073\/pnas.2011078117","type":"journal-article","created":{"date-parts":[[2020,11,16]],"date-time":"2020-11-16T20:33:09Z","timestamp":1605558789000},"page":"30509-30519","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":25,"title":["Mammalian-specific ectodermal enhancers control the expression of\n                    <i>Hoxc<\/i>\n                    genes in developing nails and hair follicles"],"prefix":"10.1073","volume":"117","author":[{"given":"Marc","family":"Fernandez-Guerrero","sequence":"first","affiliation":[{"name":"Instituto de Biomedicina y Biotecnolog\u00eda de Cantabria, Consejo Superior de Investigaciones Cient\u00edficas\u2013Universidad de Cantabria\u2013Sociedad para el Desarrollo de Cantabria, 39011 Santander, Spain;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nayuta","family":"Yakushiji-Kaminatsui","sequence":"additional","affiliation":[{"name":"School of Life Sciences, Federal Institute of Technology, Lausanne, 1015 Lausanne, Switzerland;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1964-4960","authenticated-orcid":false,"given":"Lucille","family":"Lopez-Delisle","sequence":"additional","affiliation":[{"name":"School of Life Sciences, Federal Institute of Technology, Lausanne, 1015 Lausanne, Switzerland;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sof\u00eda","family":"Zdral","sequence":"additional","affiliation":[{"name":"Instituto de Biomedicina y Biotecnolog\u00eda de Cantabria, Consejo Superior de Investigaciones Cient\u00edficas\u2013Universidad de Cantabria\u2013Sociedad para el Desarrollo de Cantabria, 39011 Santander, Spain;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6942-3325","authenticated-orcid":false,"given":"Fabrice","family":"Darbellay","sequence":"additional","affiliation":[{"name":"School of Life Sciences, Federal Institute of Technology, Lausanne, 1015 Lausanne, Switzerland;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roc\u00edo","family":"Perez-Gomez","sequence":"additional","affiliation":[{"name":"Instituto de Biomedicina y Biotecnolog\u00eda de Cantabria, Consejo Superior de Investigaciones Cient\u00edficas\u2013Universidad de Cantabria\u2013Sociedad para el Desarrollo de Cantabria, 39011 Santander, Spain;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3544-3552","authenticated-orcid":false,"given":"Christopher Chase","family":"Bolt","sequence":"additional","affiliation":[{"name":"School of Life Sciences, Federal Institute of Technology, Lausanne, 1015 Lausanne, Switzerland;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8370-1336","authenticated-orcid":false,"given":"Manuel A.","family":"Sanchez-Martin","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Salamanca, 37007 Salamanca, Spain;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9961-2960","authenticated-orcid":false,"given":"Denis","family":"Duboule","sequence":"additional","affiliation":[{"name":"School of Life Sciences, Federal Institute of Technology, Lausanne, 1015 Lausanne, Switzerland;"},{"name":"Department of Genetics and Evolution, University of Geneva, 1211 Geneva 4, Switzerland;"},{"name":"Coll\u00e8ge de France, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1224-7671","authenticated-orcid":false,"given":"Marian A.","family":"Ros","sequence":"additional","affiliation":[{"name":"Instituto de Biomedicina y Biotecnolog\u00eda de Cantabria, Consejo Superior de Investigaciones Cient\u00edficas\u2013Universidad de Cantabria\u2013Sociedad para el Desarrollo de Cantabria, 39011 Santander, Spain;"},{"name":"Departamento de Anatom\u00eda y Biolog\u00eda Celular, Facultad de Medicina, Universidad de Cantabria, 39011 Santander, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2020,11,16]]},"reference":[{"key":"e_1_3_4_1_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2007.05.011"},{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.1001773"},{"key":"e_1_3_4_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature03648"},{"key":"e_1_3_4_4_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.00936"},{"key":"e_1_3_4_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/375791a0"},{"key":"e_1_3_4_6_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1085672"},{"key":"e_1_3_4_7_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1018161108"},{"key":"e_1_3_4_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2013.03.004"},{"key":"e_1_3_4_9_2","doi-asserted-by":"publisher","DOI":"10.1098\/rspb.2004.2848"},{"key":"e_1_3_4_10_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0802355105"},{"key":"e_1_3_4_11_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0006845"},{"key":"e_1_3_4_12_2","doi-asserted-by":"publisher","DOI":"10.1101\/gad.12.1.11"},{"key":"e_1_3_4_13_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jidsp.5640221"},{"key":"e_1_3_4_14_2","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.2000.9651"},{"key":"e_1_3_4_15_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00114-003-0417-4"},{"key":"e_1_3_4_16_2","first-page":"209","article-title":"Colinearity and non-colinearity in the expression of Hox genes in developing chick skin","volume":"46","author":"Reid A. I.","year":"2002","unstructured":"A. I. Reid, S. J. Gaunt, Colinearity and non-colinearity in the expression of Hox genes in developing chick skin. Int. J. Dev. Biol. 46, 209\u2013215 (2002).","journal-title":"Int. J. Dev. Biol."},{"key":"e_1_3_4_17_2","first-page":"633","article-title":"Differential expression of two different homeobox gene families during mouse tegument morphogenesis","volume":"38","author":"Kanzler B.","year":"1994","unstructured":"B. Kanzler, J. P. Viallet, H. Le Mouellic, D. Duboule, D. Dhouailly, Differential expression of two different homeobox gene families during mouse tegument morphogenesis. Int. J. Dev. Biol. 38, 633\u2013640 (1994).","journal-title":"Int. J. Dev. Biol."},{"key":"e_1_3_4_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4773(02)00022-9"},{"key":"e_1_3_4_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.stem.2018.07.016"},{"key":"e_1_3_4_20_2","doi-asserted-by":"publisher","DOI":"10.1002\/jez.1401270203"},{"key":"e_1_3_4_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.semcdb.2014.01.007"},{"key":"e_1_3_4_22_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2015.04.011"},{"key":"e_1_3_4_23_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.aah6102"},{"key":"e_1_3_4_24_2","doi-asserted-by":"publisher","DOI":"10.1038\/244492a0"},{"key":"e_1_3_4_25_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.124.10.1909"},{"key":"e_1_3_4_26_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.02822"},{"key":"e_1_3_4_27_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0177(199608)206:4<379::AID-AJA4>3.0.CO;2-F"},{"key":"e_1_3_4_28_2","doi-asserted-by":"publisher","DOI":"10.1387\/ijdb.072416mf"},{"key":"e_1_3_4_29_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2005.01.008"},{"key":"e_1_3_4_30_2","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1994.1037"},{"key":"e_1_3_4_31_2","doi-asserted-by":"publisher","DOI":"10.1097\/MOH.0000000000000239"},{"key":"e_1_3_4_32_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1085753"},{"key":"e_1_3_4_33_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.08.029"},{"key":"e_1_3_4_34_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36359"},{"key":"e_1_3_4_35_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2011.10.023"},{"key":"e_1_3_4_36_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2013.09.002"},{"key":"e_1_3_4_37_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1004018"},{"key":"e_1_3_4_38_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature09158"},{"key":"e_1_3_4_39_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature25461"},{"key":"e_1_3_4_40_2","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2010.391"},{"key":"e_1_3_4_41_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1731184100"},{"key":"e_1_3_4_42_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.0022-202X.2004.23442.x"},{"key":"e_1_3_4_43_2","doi-asserted-by":"publisher","DOI":"10.1101\/gad.303123.117"},{"key":"e_1_3_4_44_2","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2019.00257"},{"key":"e_1_3_4_45_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-169X.2007.00928.x"},{"key":"e_1_3_4_46_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000398"},{"key":"e_1_3_4_47_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1171468"},{"key":"e_1_3_4_48_2","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1631708"},{"key":"e_1_3_4_49_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.001065"},{"key":"e_1_3_4_50_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1234167"},{"key":"e_1_3_4_51_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1617141113"},{"key":"e_1_3_4_52_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(03)00310-6"},{"key":"e_1_3_4_53_2","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-86659-3"},{"key":"e_1_3_4_54_2","doi-asserted-by":"publisher","DOI":"10.1002\/wdev.78"},{"key":"e_1_3_4_55_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M101616200"},{"key":"e_1_3_4_56_2","doi-asserted-by":"publisher","DOI":"10.1017\/S0016672300010168"},{"key":"e_1_3_4_57_2","doi-asserted-by":"publisher","DOI":"10.1096\/fj.201800928RR"},{"key":"e_1_3_4_58_2","first-page":"184","article-title":"Generation of Hoxc13 knockout pigs recapitulates human ectodermal dysplasia\u20139","volume":"26","author":"Han K.","year":"2017","unstructured":"K. Han ., Generation of Hoxc13 knockout pigs recapitulates human ectodermal dysplasia\u20139. Hum. Mol. Genet. 26, 184\u2013191 (2017).","journal-title":"Hum. Mol. Genet."},{"key":"e_1_3_4_59_2","first-page":"578","article-title":"A homozygous frameshift mutation in the HOXC13 gene underlies pure hair and nail ectodermal dysplasia in a Syrian family","volume":"34","author":"Farooq M.","year":"2013","unstructured":"M. Farooq ., A homozygous frameshift mutation in the HOXC13 gene underlies pure hair and nail ectodermal dysplasia in a Syrian family. Hum. Mutat. 34, 578\u2013581 (2013).","journal-title":"Hum. Mutat."},{"key":"e_1_3_4_60_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-017-0402-y"},{"key":"e_1_3_4_61_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.110.4.1021"},{"key":"e_1_3_4_62_2","doi-asserted-by":"crossref","unstructured":"I. Desanlis . HOX13-dependent chromatin accessibility modulates the target repertoires of the HOX factors. https:\/\/doi.org\/10.1101\/789875 (25 May 2020).","DOI":"10.1101\/789875"},{"key":"e_1_3_4_63_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.22.13042"},{"key":"e_1_3_4_64_2","first-page":"1","article-title":"ATAC-seq: A method for assaying chromatin accessibility genome-wide","volume":"109","author":"Buenrostro J.","year":"2016","unstructured":"J. Buenrostro, B. Wu, H. Chang, W. Greenleaf, ATAC-seq: A method for assaying chromatin accessibility genome-wide. Curr. Protoc. Mol. Biol. 109, 1\u201321 (2016).","journal-title":"Curr. Protoc. Mol. Biol."},{"key":"e_1_3_4_65_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkh458"},{"key":"e_1_3_4_66_2","doi-asserted-by":"publisher","DOI":"10.1534\/genetics.115.176594"},{"key":"e_1_3_4_67_2","doi-asserted-by":"publisher","DOI":"10.1038\/srep11315"},{"key":"e_1_3_4_68_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2018.12.004"}],"container-title":["Proceedings of the National Academy of Sciences"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.pnas.org\/syndication\/doi\/10.1073\/pnas.2011078117","content-type":"unspecified","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/pnas.org\/doi\/pdf\/10.1073\/pnas.2011078117","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,13]],"date-time":"2022-04-13T06:57:40Z","timestamp":1649833060000},"score":1,"resource":{"primary":{"URL":"https:\/\/pnas.org\/doi\/full\/10.1073\/pnas.2011078117"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11,16]]},"references-count":68,"journal-issue":{"issue":"48","published-print":{"date-parts":[[2020,12]]}},"alternative-id":["10.1073\/pnas.2011078117"],"URL":"https:\/\/doi.org\/10.1073\/pnas.2011078117","relation":{},"ISSN":["0027-8424","1091-6490"],"issn-type":[{"value":"0027-8424","type":"print"},{"value":"1091-6490","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,11,16]]},"assertion":[{"value":"2020-11-16","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}