Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome
a pseudogene and a genuine gene.Higashi Y., Yoshioka H., Yamane M., Gotoh O., Fujii-Kuriyama Y.Proc. Natl. Acad. Sci. U.S.A. 83:2841-2845(1986)
Structure of human steroid 21-hydroxylase genes.White P.C., New M.I., Dupont B.Proc. Natl. Acad. Sci. U.S.A. 83:5111-5115(1986)
Molecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasia.Rodrigues N.R., Dunham I., Yu C.Y., Carroll M.C., Porter R.R., Campbell R.D.EMBO J. 6:1653-1661(1987)
Nonsense mutation causing steroid 21-hydroxylase deficiency.Globerman H., Amor M., Parker K.L., New M.I., White P.C.J. Clin. Invest. 82:139-144(1988)
R339H and P453S
CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions.Helmberg A., Tusie-Luna M.-T., Tabarelli M., Kofler R., White P.C.Mol. Endocrinol. 6:1318-1322(1992)
Linkage analysis of the C4A/C4B copy number variation and polymorphisms of the adjacent steroid 21-hydroxylase gene in a healthy population.Blasko B., Banlaki Z., Gyapay G., Pozsonyi E., Sasvari-Szekely M., Rajczy K., Fust G., Szilagyi A.Mol. Immunol. 46:2623-2629(2009)
Complete sequencing and characterization of 21,243 full-length human cDNAs.Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S., Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.Nat. Genet. 36:40-45(2004)
The DNA sequence and analysis of human chromosome 6.Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.Nature 425:805-811(2003)
Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
A de novo pathological point mutation at the 21-hydroxylase locus
implications for gene conversion in the human genome.Collier S., Tassabehji M., Sinnott P., Strachan T.Nat. Genet. 3:260-265(1993)
Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man.Carroll M.C., Campbell R.D., Porter R.R.Proc. Natl. Acad. Sci. U.S.A. 82:521-525(1985)
Mutation in the CYP21B gene (Ile-172-->Asn)
causes steroid 21-hydroxylase deficiency.Amor M., Parker K.L., Globerman H., New M.I., White P.C.Proc. Natl. Acad. Sci. U.S.A. 85:1600-1604(1988)
P450XXI (steroid 21-hydroxylase)
gene deletions are not found in family studies of congenital adrenal hyperplasia.Matteson K.J., Phillips J.A. III, Miller W.L., Chung B.C., Orlando P.J., Frisch H., Ferrandez A., Burr I.M.Proc. Natl. Acad. Sci. U.S.A. 84:5858-5862(1987)
Mutations of P450c21 (steroid 21-hydroxylase)
at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectively.Wu D.-A., Chung B.-C.J. Clin. Invest. 88:519-523(1991)
Molecular genetics of 21-hydroxylase deficient late-onset adrenal hyperplasia.Gunn S.K., Sherman L.D., Therrell B.L., Owerbach D.I.Semin. Reprod. Endocrinol. 11:347-352(1993)
Mutations in steroid 21-hydroxylase (CYP21)
.White P.C., Tusie-Luna M.-T., New M.I., Speiser P.W.Hum. Mutat. 3:373-378(1994)
Molecular genetic analysis of nonclassic steroid 21-hydroxylase deficiency associated with HLA-B14,DR1.Speiser P.W., New M.I., White P.C.N. Engl. J. Med. 319:19-23(1988)
A missense mutation at Ile172-->Asn or Arg356-->Trp causes steroid 21-hydroxylase deficiency.Chiou S.-H., Hu M.-C., Chung B.-C.J. Biol. Chem. 265:3549-3552(1990)
Substitution of Ile-172 to Asn in the steroid 21-hydroxylase B (P450c21B)
gene in a Finnish patient with the simple virilizing form of congenital adrenal hyperplasia.Partanen J., Campbell R.D.Hum. Genet. 87:716-720(1991)
A mutation (Pro-30 to Leu)
in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele.Tusie-Luna M.T., Speiser P.W., Dumic M., New M.I., White P.C.Mol. Endocrinol. 5:685-692(1991)
Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.Speiser P.W., Dupont J., Zhu D., Serrat J., Buegeleisen M., Tusie-Luna M.-T., Lesser M., New M.I., White P.C.J. Clin. Invest. 90:584-595(1992)
Pro-453 to Ser mutation in CYP21 is associated with nonclassic steroid 21-hydroxylase deficiency.Owerbach D., Sherman L., Ballard A.L., Azziz R.Mol. Endocrinol. 6:1211-1215(1992)
Steroid 21-hydroxylase deficiency
three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations.Wedell A., Ritzen E.M., Haglund-Stengler B., Luthman H.Proc. Natl. Acad. Sci. U.S.A. 89:7232-7236(1992)
Steroid 21-hydroxylase (P450c21)
a new allele and spread of mutations through the pseudogene.Wedell A., Luthman H.Hum. Genet. 91:236-240(1993)
Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency.Barbat B., Bogyo A., Raux-Demay M.-C., Kuttenn F., Boue J., Simon-Bouy B., Serre J.-L., Boue A., Mornet E.Hum. Mutat. 5:126-130(1995)
E380D
a novel point mutation of CYP21 in an HLA-homozygous patient with salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency.Kirby-Keyser L., Porter C.C., Donohoue P.A.3.0.CO;2-Z>Hum. Mutat. 9:181-182(1997)
A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction.Lajic S., Levo A., Nikoshkov A., Lundberg Y., Partanen J., Wedell A.Hum. Genet. 99:704-709(1997)
Synergistic effect of partially inactivating mutations in steroid 21-hydroxylase deficiency.Nikoshkov A., Lajic S., Holst M., Wedell A., Luthman H.J. Clin. Endocrinol. Metab. 82:194-199(1997)
Molecular genetic analysis of patients carrying steroid 21-hydroxylase deficiency in the Mexican population
identification of possible new mutations and high prevalence of apparent germ-line mutations.Ordonez-Sanchez M.L., Ramirez-Jimenez S., Lopez-Gutierrez A.U., Riba L., Gamboa-Cardiel S., Cerrillo-Hinojosa M., Altamirano-Bustamante N., Calzada-Leon R., Robles-Valdes C., Mendoza-Morfin F., Tusie-Luna M.T.Hum. Genet. 102:170-177(1998)
Naturally occurring mutants of human steroid 21-hydroxylase (P450c21)
pinpoint residues important for enzyme activity and stability.Nikoshkov A., Lajic S., Vlamis-Gardikas A., Tranebjaerg L., Holst M., Wedell A., Luthman H.J. Biol. Chem. 273:6163-6165(1998)
Effects of missense mutations and deletions on membrane anchoring and enzyme function of human steroid 21-hydroxylase (P450c21)
.Lajic S., Nikoshkov A., Holst M., Wedell A.Biochem. Biophys. Res. Commun. 257:384-390(1999)
Mutation analysis in patients with congenital adrenal hyperplasia in the Spanish population
identification of putative novel steroid 21-hydroxylase deficiency alleles associated with the classic form of the disease.Lobato M.N., Ordonez-Sanchez M.L., Tusie-Luna M.T., Meseguer A.Hum. Hered. 49:169-175(1999)
Identification of CYP21 mutations, one novel, by single strand conformational polymorphism (SSCP)
analysis.Witchel S.F., Smith R., Suda-Hartman M.3.3.CO;2-E>Hum. Mutat. 13:172-172(1999)
Steroid 21-hydroxylase deficiency
mutational spectrum in Denmark, three novel mutations, and in vitro expression analysis.Ohlsson G., Mueller J., Skakkebaek N.E., Schwartz M.3.0.CO;2-0>Hum. Mutat. 13:482-486(1999)
A rapid screening for steroid 21-hydroxylase mutations in patients with congenital adrenal hyperplasia.Kapelari K., Ghanaati Z., Wollmann H., Ventz M., Ranke M.B., Kofler R., Peters H.3.0.CO;2-0>Hum. Mutat. 13:505-505(1999)
A novel missense mutation, GLY424SER, in Brazilian patients with 21-hydroxylase deficiency.Billerbeck A.E.C., Bachega T.A.S.S., Frazatto E.T., Nishi M.Y., Goldberg A.C., Marin M.L.C., Madureira G., Monte O., Arnhold I.J.P., Mendonca B.B.J. Clin. Endocrinol. Metab. 84:2870-2872(1999)
Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency.Asanuma A., Ohura T., Ogawa E., Sato S., Igarashi Y., Matsubara Y., Iinuma K.J. Hum. Genet. 44:312-317(1999)
Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis.Lako M., Ramsden S., Campbell R.D., Strachan T.J. Med. Genet. 36:119-124(1999)
Characterization of single-nucleotide polymorphisms in coding regions of human genes.Cargill M., Altshuler D., Ireland J., Sklar P., Ardlie K., Patil N., Shaw N., Lane C.R., Lim E.P., Kalyanaraman N., Nemesh J., Ziaugra L., Friedland L., Rolfe A., Warrington J., Lipshutz R., Daley G.Q., Lander E.S.Nat. Genet. 22:231-238(1999)
ErratumCargill M., Altshuler D., Ireland J., Sklar P., Ardlie K., Patil N., Shaw N., Lane C.R., Lim E.P., Kalyanaraman N., Nemesh J., Ziaugra L., Friedland L., Rolfe A., Warrington J., Lipshutz R., Daley G.Q., Lander E.S.Nat. Genet. 23:373-373(1999)
Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany.Krone N., Braun A., Roscher A.A., Knorr D., Schwarz H.P.J. Clin. Endocrinol. Metab. 85:1059-1065(2000)
Molecular analysis of CYP-21 mutations for congenital adrenal hyperplasia in Singapore.Loke K.Y., Lee Y.S., Lee W.W.R., Poh L.K.S.Horm. Res. 55:179-184(2001)
Phenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.Deneux C., Tardy V., Dib A., Mornet E., Billaud L., Charron D., Morel Y., Kuttenn F.J. Clin. Endocrinol. Metab. 86:207-213(2001)
Mutational spectrum of the steroid 21-hydroxylase gene in Austria
identification of a novel missense mutation.Baumgartner-Parzer S.M., Schulze E., Waldhaeusl W., Pauschenwein S., Rondot S., Nowotny P., Meyer K., Frisch H., Waldhauser F., Vierhapper H.J. Clin. Endocrinol. Metab. 86:4771-4775(2001)
Novel mutations in the human CYP21 gene.Levo A., Partanen J.Prenat. Diagn. 21:885-889(2001)
Non-classical 21-hydroxylase deficiency in children
association of adrenocorticotropic hormone-stimulated 17-hydroxyprogesterone with the risk of compound heterozygosity with severe mutations.Ezquieta B., Cueva E., Varela J., Oliver A., Fernandez J., Jariego C.Acta Paediatr. 91:892-898(2002)
Novel mutations in CYP21 detected in individuals with hyperandrogenism.Lajic S., Clauin S., Robins T., Vexiau P., Blanche H., Bellanne-Chantelot C., Wedell A.J. Clin. Endocrinol. Metab. 87:2824-2829(2002)
Three novel mutations in CYP21 gene in Brazilian patients with the classical form of 21-hydroxylase deficiency due to a founder effect.Billerbeck A.E.C., Mendonca B.B., Pinto E.M., Madureira G., Arnhold I.J.P., Bachega T.A.S.S.J. Clin. Endocrinol. Metab. 87:4314-4317(2002)
Mutational spectrum of congenital adrenal hyperplasia in Slovenian patients
a novel Ala15Thr mutation and Pro30Leu within a larger gene conversion associated with a severe form of the disease.Dolzan V., Stopar-Obreza M., Zerjav-Tansek M., Breskvar K., Krzisnik C., Battelino T.Eur. J. Endocrinol. 149:137-144(2003)
Follow-up of 68 children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
relevance of genotype for management.Pinto G., Tardy V., Trivin C., Thalassinos C., Lortat-Jacob S., Nihoul-Fekete C., Morel Y., Brauner R.J. Clin. Endocrinol. Metab. 88:2624-2633(2003)
CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands
six novel mutations and a specific cluster of four mutations.Stikkelbroeck N.M., Hoefsloot L.H., de Wijs I.J., Otten B.J., Hermus A.R., Sistermans E.A.J. Clin. Endocrinol. Metab. 88:3852-3859(2003)
Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency
identification of four novel mutations and high prevalence of Q318X mutation.Kharrat M., Tardy V., M'Rad R., Maazoul F., Jemaa L.B., Refai M., Morel Y., Chaabouni H.J. Clin. Endocrinol. Metab. 89:368-374(2004)
Three novel mutations in Japanese patients with 21-hydroxylase deficiency.Usui T., Nishisho K., Kaji M., Ikuno N., Yorifuji T., Yasuda T., Kuzuya H., Shimatsu A.Horm. Res. 61:126-132(2004)
Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia.Barbaro M., Lajic S., Baldazzi L., Balsamo A., Pirazzoli P., Cicognani A., Wedell A., Cacciari E.J. Clin. Endocrinol. Metab. 89:2402-2407(2004)
Detection and assignment of CYP21 mutations using peptide mass signature genotyping.Zeng X., Witchel S.F., Dobrowolski S.F., Moulder P.V., Jarvik J.W., Telmer C.A.Mol. Genet. Metab. 82:38-47(2004)
21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia.Grigorescu Sido A., Weber M.M., Grigorescu Sido P., Clausmeyer S., Heinrich U., Schulze E.J. Clin. Endocrinol. Metab. 90:5769-5773(2005)
p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency.Menassa R., Tardy V., Despert F., Bouvattier-Morel C., Brossier J.P., Cartigny M., Morel Y.J. Clin. Endocrinol. Metab. 93:1901-1908(2008)
Inhibition of CYP21A2 enzyme activity caused by novel missense mutations identified in Brazilian and Scandinavian patients.Soardi F.C., Barbaro M., Lau I.F., Lemos-Marini S.H., Baptista M.T., Guerra-Junior G., Wedell A., Lajic S., de Mello M.P.J. Clin. Endocrinol. Metab. 93:2416-2420(2008)
Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia
potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction.Riepe F.G., Hiort O., Grotzinger J., Sippell W.G., Krone N., Holterhus P.M.J. Clin. Endocrinol. Metab. 93:2891-2895(2008)
Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier.Tardy V., Menassa R., Sulmont V., Lienhardt-Roussie A., Lecointre C., Brauner R., David M., Morel Y.J. Clin. Endocrinol. Metab. 95:1288-1300(2010)
+Additional computationally mapped references.<p>Provides general information on the entry.
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