{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T05:46:06Z","timestamp":1789451166784,"version":"build-2803163510"},"reference-count":41,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2005,4,2]],"date-time":"2005-04-02T00:00:00Z","timestamp":1112400000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[2005,6]]},"DOI":"10.1007\/s00439-005-1295-y","type":"journal-article","created":{"date-parts":[[2005,4,1]],"date-time":"2005-04-01T11:36:45Z","timestamp":1112355405000},"page":"43-53","source":"Crossref","is-referenced-by-count":31,"title":["A homozygous nonsense mutation in SOX9 in the dominant disorder campomelic dysplasia: a case of mitotic gene conversion"],"prefix":"10.1007","volume":"117","author":[{"given":"Ramona","family":"Pop","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael V.","family":"Zaragoza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mara","family":"Gaudette","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"Dohrmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerd","family":"Scherer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2005,4,2]]},"reference":[{"key":"1295_CR1","doi-asserted-by":"crossref","first-page":"2813","DOI":"10.1101\/gad.1017802","volume":"16","author":"H Akiyama","year":"2002","unstructured":"Akiyama H, Chaboissier MC, Martin JF, Schedl A, Crombrugghe B de (2002) The transcription factor Sox9 has essential roles in successive steps of the chondrocyte differentiation pathway and is required for expression of Sox5 and Sox6. Genes Dev 16:2813\u20132828","journal-title":"Genes Dev"},{"key":"1295_CR2","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1016\/S0092-8674(00)81527-5","volume":"99","author":"NA Arango","year":"1999","unstructured":"Arango NA, Lovell-Badge R, Behringer RR (1999) Targeted mutagenesis of the endogenous mouse Mis gene promoter: in vivo definition of genetic pathways of vertebrate sexual development. Cell 99:409\u2013419","journal-title":"Cell"},{"key":"1295_CR3","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/0092-8674(83)90508-1","volume":"32","author":"DL Bentley","year":"1983","unstructured":"Bentley DL, Rabbits TH (1983) Evolution of immunoglobulin V genes: evidence indicating that recently duplicated human V\u03ba sequences have diverged by gene conversion. Cell 32:181\u2013189","journal-title":"Cell"},{"key":"1295_CR4","doi-asserted-by":"crossref","first-page":"1755","DOI":"10.1093\/hmg\/ddg182","volume":"12","author":"P Bernard","year":"2003","unstructured":"Bernard P, Tang P, Liu S, Dewing P, Harley VR, Vilain E (2003) Dimerization of SOX9 is required for chondrogenesis, but not for sex determination. Hum Mol Genet 12:1755\u20131765","journal-title":"Hum Mol Genet"},{"key":"1295_CR5","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1038\/8792","volume":"22","author":"W Bi","year":"1999","unstructured":"Bi W, Deng JM, Zhang Z, Behringer RB, Crombrugghe B de (1999) Sox9 is required for cartilage formation. Nat Genet 22:85\u201389","journal-title":"Nat Genet"},{"key":"1295_CR6","first-page":"839","volume":"49","author":"CDK Bottema","year":"1991","unstructured":"Bottema CDK, Bottema MJ, Ketterling RP, Yoon HS, Janco RL, Phillips JA III, Sommer SS (1991) Why does the human factor IX gene have a G + C content of 40%? Am J Hum Genet 49:839\u2013850","journal-title":"Am J Hum Genet"},{"key":"1295_CR7","doi-asserted-by":"crossref","first-page":"14998","DOI":"10.1074\/jbc.273.24.14998","volume":"273","author":"LC Bridgewater","year":"1998","unstructured":"Bridgewater LC, Lefebvre V, Crombrugghe B de (1998) Chondrocyte-specific enhancer elements in the Col11a2 gene resemble the Col2a1 tissue-specific enhancer. J Biol Chem 273:14998\u201315006","journal-title":"J Biol Chem"},{"key":"1295_CR8","doi-asserted-by":"crossref","first-page":"1541","DOI":"10.1093\/nar\/gkg230","volume":"31","author":"LC Bridgewater","year":"2003","unstructured":"Bridgewater LC, Walker MD, Miller GC, Ellison TA, Holsinger LD, Potter JL, Jackson TL, Chen RK, Winkel VL, Zhang Z, McKinney S, Crombrugghe B de (2003) Adjacent DNA sequences modulate Sox9 transcriptional activation at paired Sox sites in three chondrocyte-specific enhancer elements. Nucleic Acids Res 31:1541\u20131553","journal-title":"Nucleic Acids Res"},{"key":"1295_CR9","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1038\/305779a0","volume":"305","author":"WK Cavenee","year":"1993","unstructured":"Cavenee WK, Dryja TP, Phillips RA, Benedict WF, Godbout R, Gallie BL, Murphree AL, Strong LC, White RL (1993) Expression of recessive alleles by chromosomal mechanisms in retinoblastoma. Nature 305:779\u2013784","journal-title":"Nature"},{"key":"1295_CR10","doi-asserted-by":"crossref","first-page":"1891","DOI":"10.1242\/dev.01087","volume":"131","author":"MC Chaboissier","year":"2004","unstructured":"Chaboissier MC, Kobayashi A, Vidal VIP, L\u00fctzkendorf S, Kant HJK van de, Wegner M, Rooij DG de, Behringer RR, Schedl A (2004) Functional analysis of Sox8 and Sox9 during sex determination in the mouse. Development 131:1891\u20131901","journal-title":"Development"},{"key":"1295_CR11","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1038\/ng0393-260","volume":"3","author":"S Collier","year":"1993","unstructured":"Collier S, Tassabehji M, Sinnott P, Strachan T (1993) A de novo pathological point mutation at the 21-hydroxylase locus: implications for gene conversion in the human genome. Nat Genet 3:260\u2013265","journal-title":"Nat Genet"},{"key":"1295_CR12","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1007\/BF00278187","volume":"78","author":"DN Cooper","year":"1988","unstructured":"Cooper DN, Youssouffian H (1988) The CpG dinucleotide and human genetic disease. Hum Genet 78:151\u2013155","journal-title":"Hum Genet"},{"key":"1295_CR13","doi-asserted-by":"crossref","first-page":"2221","DOI":"10.1073\/pnas.91.6.2221","volume":"91","author":"JCJ Eikenboom","year":"1994","unstructured":"Eikenboom JCJ, Vink T, Briet E, Sixma JJ, Reitsma PH (1994) Multiple substitutions in the von Willebrand factor gene that mimic the pseudogene sequence. Proc Natl Acad Sci USA 91:2221\u20132224","journal-title":"Proc Natl Acad Sci USA"},{"key":"1295_CR14","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1056\/NEJM198702193160802","volume":"316","author":"ER Fearon","year":"1987","unstructured":"Fearon ER, Winkelstein JA, Civin CI, Pardoll DM, Vogelstein B (1987) Carrier detection in X-linked agammaglobulinemia by analysis of X-chromosome inactivation. N Engl J Med 316:427\u2013431","journal-title":"N Engl J Med"},{"key":"1295_CR15","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1038\/372525a0","volume":"372","author":"JW Foster","year":"1994","unstructured":"Foster JW, Dominguez-Steglich MA, Guioli S, Kwok C, Weller PA, Stevanovic M, Weissenbach J, Mansour S, Young ID, Goodfellow PN, Brook JD, Schafer AJ (1994) Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature 372:525\u2013530","journal-title":"Nature"},{"key":"1295_CR16","doi-asserted-by":"crossref","first-page":"S112","DOI":"10.1002\/humu.1380110137","volume":"1","author":"RM Hageman","year":"1998","unstructured":"Hageman RM, Cameron FJ, Sinclair AH (1998) Mutation analysis of the SOX9 gene in a patient with campomelic dysplasia. Hum Mutat Suppl 1:S112\u2013S113","journal-title":"Hum Mutat Suppl"},{"key":"1295_CR17","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1136\/jmg.40.10.721","volume":"40","author":"R Hirschhorn","year":"2003","unstructured":"Hirschhorn R (2003) In vivo reversion to normal of inherited mutations in humans. J Med Genet 40:721\u2013728","journal-title":"J Med Genet"},{"key":"1295_CR18","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1002\/ajmg.1320150103","volume":"15","author":"CS Houston","year":"1983","unstructured":"Houston CS, Opitz JM, Spranger JW, Macpherson RI, Reed MH, Gilbert EF, Herrmann J, Schinzel A (1983) The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al. in 1971. Am J Med Genet 15:3\u201328","journal-title":"Am J Med Genet"},{"key":"1295_CR19","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1042\/bst0290196","volume":"29","author":"RD Johnson","year":"2001","unstructured":"Johnson RD, Jasin M (2001) Double-strand-break-induced homologous recombination in mammalian cells. Biochem Soc Trans 29:196\u2013201","journal-title":"Biochem Soc Trans"},{"key":"1295_CR20","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1016\/S0092-8674(00)81894-2","volume":"88","author":"MF Jonkman","year":"1997","unstructured":"Jonkman MF, Scheffer H, Stulp R, Pas HH, Nijenhuis M, Heeres K, Owaribe K, Pulkkinen L, Uitto J (1997) Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion. Cell 88:543\u2013551","journal-title":"Cell"},{"key":"1295_CR21","doi-asserted-by":"crossref","first-page":"2813","DOI":"10.1242\/dev.122.9.2813","volume":"122","author":"J Kent","year":"1996","unstructured":"Kent J, Wheatley SC, Andrews JE, Sinclair AH, Koopman P (1996) A male-specific role for SOX9 in vertebrate sex determination. Development 122:2813\u20132822","journal-title":"Development"},{"key":"1295_CR22","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1016\/0168-9525(86)90179-4","volume":"2","author":"P Kourilsky","year":"1986","unstructured":"Kourilsky P (1986) Molecular mechanisms for gene conversion in higher cells. Trends Genet 2:60\u201363","journal-title":"Trends Genet"},{"key":"1295_CR23","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1111\/j.1399-0039.1991.tb01889.x","volume":"38","author":"MK Kuhner","year":"1991","unstructured":"Kuhner MK, Lawlor DA, Ennis PD, Parham P (1991) Gene conversion in the evolution of the human and chimpanzee MHC class I loci. Tissue Antigens 38:152\u2013164","journal-title":"Tissue Antigens"},{"key":"1295_CR24","doi-asserted-by":"crossref","first-page":"2336","DOI":"10.1128\/MCB.17.4.2336","volume":"17","author":"V Lefebvre","year":"1997","unstructured":"Lefebvre V, Huang W, Harley VR, Goodfellow PN, Crombrugghe B de (1997) SOX9 is a potent activator of the chondrocyte-specific enhancer of the pro alpha1(II) collagen gene. Mol Cell Biol 17:2336\u20131246","journal-title":"Mol Cell Biol"},{"key":"1295_CR25","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1136\/jmg.32.6.415","volume":"32","author":"S Mansour","year":"1995","unstructured":"Mansour S, Hall CM, Pembrey ME, Young ID (1995) A clinical and genetic study of campomelic dysplasia. J Med Genet 32:415\u2013420","journal-title":"J Med Genet"},{"key":"1295_CR26","doi-asserted-by":"crossref","first-page":"24023","DOI":"10.1074\/jbc.274.34.24023","volume":"274","author":"S McDowall","year":"1999","unstructured":"McDowall S, Argentaro A, Ranganathan S, Weller P, Mertin S, Mansour S, Tolmie J, Harley V (1999) Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia. J Biol Chem 274:24023\u201324030","journal-title":"J Biol Chem"},{"key":"1295_CR27","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1093\/hmg\/6.1.91","volume":"6","author":"J Meyer","year":"1997","unstructured":"Meyer J, S\u00fcdbeck P, Held M, Wagner T, Schmitz ML, Bricarelli FD, Eggermont E, Friedrich U, Haas OA, Kobelt A, Leroy JG, Maldergem L van, Michel E, Mitulla B, Pfeiffer RA, Schinzel A, Schmidt H, Scherer G (1997) Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype\/phenotype correlations. Hum Mol Genet 6:91\u201398","journal-title":"Hum Mol Genet"},{"key":"1295_CR28","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1038\/ng0996-62","volume":"14","author":"S Morais da Silva","year":"1996","unstructured":"Morais da Silva S, Hacker A, Harley V, Goodfellow P, Swain A, Lovell-Badge R (1996) Sox9 expression during gonadal development implies a conserved role for the gene in testis differentiation in mammals and birds. Nat Genet 14:62\u201368","journal-title":"Nat Genet"},{"key":"1295_CR29","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1006\/dbio.1996.8487","volume":"183","author":"LJ Ng","year":"1997","unstructured":"Ng LJ, Wheatley S, Muscat GEO, Conway-Campbell J, Bowles J, Wright E, Bell DM, Tam PP, Cheah KS, Koopman P (1997) SOX9 binds DNA, activates transcription, and coexpresses with type II collagen during chondrogenesis in the mouse. Dev Biol 183:108\u2013121","journal-title":"Dev Biol"},{"key":"1295_CR30","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1002\/(SICI)1096-8628(19990507)84:1<20::AID-AJMG5>3.0.CO;2-N","volume":"84","author":"PN Olney","year":"1999","unstructured":"Olney PN, Kean LS, Graham D, Elsas LJ, May KM (1999) Campomelic syndrome and deletion of SOX9. Am J Med Genet 84:20\u201324","journal-title":"Am J Med Genet"},{"key":"1295_CR31","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1086\/302455","volume":"65","author":"D Pfeifer","year":"1999","unstructured":"Pfeifer D, Kist R, Dewar K, Devon K, Lander ES, Birren B, Korniszewski L, Back E, Scherer G (1999) Campomelic dysplasia translocation breakpoints are scattered over 1\u00a0Mb proximal to SOX9: evidence for an extended control region. Am J Hum Genet 65:111\u2013124","journal-title":"Am J Hum Genet"},{"key":"1295_CR32","doi-asserted-by":"crossref","first-page":"e47","DOI":"10.1136\/jmg.2003.013185","volume":"41","author":"R Pop","year":"2004","unstructured":"Pop R, Conz C, Lindenberg KS, Blesson S, Schmalenberger B, Briault S, Pfeifer D, Scherer G (2004) Screening of the 1\u00a0Mb SOX9 5\u2032 control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal. J Med Genet 41:e47","journal-title":"J Med Genet"},{"key":"1295_CR33","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1006\/geno.1995.9998","volume":"29","author":"E Reyniers","year":"1995","unstructured":"Reyniers E, Thienen MN van, Meire F, Boulle K de, Devries K, Kestelijn P, Willems PJ (1995) Gene conversion between red and defective green opsin gene in blue cone monochromacy. Genomics 29:323\u2013328","journal-title":"Genomics"},{"key":"1295_CR34","doi-asserted-by":"crossref","first-page":"6653","DOI":"10.1128\/MCB.18.11.6653","volume":"18","author":"P Santa Barbara de","year":"1998","unstructured":"Santa Barbara P de, Bonneaud N, Boizet B, Desclozeaux M, Moniot B, S\u00fcdbeck P, Scherer G, Poulat F, Berta P (1998) Direct interaction of SRY-related protein SOX9 and steroidogenic factor 1 regulates transcription of the human anti-M\u00fcllerian hormone gene. Mol Cell Biol 18:6653\u20136665","journal-title":"Mol Cell Biol"},{"key":"1295_CR35","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1016\/0092-8674(80)90426-2","volume":"21","author":"JL Slightom","year":"1980","unstructured":"Slightom JL, Blechl AE, Smithies O (1980) Human fetal G\u03b3- and A\u03b3-globin genes: complete nucleotide sequences suggest that DNA can be exchanged between these duplicate genes. Cell 21:627\u2013638","journal-title":"Cell"},{"key":"1295_CR36","doi-asserted-by":"crossref","first-page":"1439","DOI":"10.1093\/hmg\/ddg158","volume":"12","author":"E Sock","year":"2003","unstructured":"Sock E, Pagon RA, Keymolen K, Lissens W, Wegner M, Scherer G (2003) Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia. Hum Mol Genet 12:1439\u20131447","journal-title":"Hum Mol Genet"},{"key":"1295_CR37","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1038\/ng0696-230","volume":"13","author":"P S\u00fcdbeck","year":"1996","unstructured":"S\u00fcdbeck P, Schmitz ML, Baeuerle PA, Scherer G (1996) Sex reversal by loss of the C-terminal transactivation domain of human SOX9. Nat Genet 13:230\u2013232","journal-title":"Nat Genet"},{"key":"1295_CR38","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1038\/90046","volume":"28","author":"VP Vidal","year":"2001","unstructured":"Vidal VP, Chaboissier MC, Rooij DG de, Schedl A (2001) Sox9 induces testis development in XX transgenic mice. Nat Genet 28:216\u2013217","journal-title":"Nat Genet"},{"key":"1295_CR39","doi-asserted-by":"crossref","first-page":"1111","DOI":"10.1016\/0092-8674(94)90041-8","volume":"79","author":"T Wagner","year":"1994","unstructured":"Wagner T, Wirth J, Meyer J, Zabel B, Held M, Zimmer J, Pasantes J, Dagna Bricarelli F, Keutel J, Hustert E, Wolf U, Tommerup N, Schempp W, Scherer G (1994) Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. Cell 79:1111\u20131120","journal-title":"Cell"},{"key":"1295_CR40","doi-asserted-by":"crossref","first-page":"1239","DOI":"10.1093\/hmg\/7.8.1239","volume":"7","author":"TJ Watnick","year":"1998","unstructured":"Watnick TJ, Gandolph MA, Weber H, Neumann HPH, Germino GG (1998) Gene conversion is a likely cause of mutation in PKD1. Hum Mol Genet 7:1239\u20131243","journal-title":"Hum Mol Genet"},{"key":"1295_CR41","first-page":"1279","volume":"62","author":"C Wiese","year":"2002","unstructured":"Wiese C, Pierce AJ, Gauny SS, Jasin M, Kronenberg A (2002) Gene conversion is strongly induced in human cells by double-strand breaks and is modulated by the expression of BCL-x(L). Cancer Res 62:1279\u20131283","journal-title":"Cancer Res"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-005-1295-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00439-005-1295-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-005-1295-y","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,7,7]],"date-time":"2021-07-07T15:54:59Z","timestamp":1625673299000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00439-005-1295-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,4,2]]},"references-count":41,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2005,6]]}},"alternative-id":["1295"],"URL":"https:\/\/doi.org\/10.1007\/s00439-005-1295-y","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,4,2]]}}}