The DOI matches its Crossref record; 44 of the 44 references it cites were found in a registry or an index.
Nonsense mutation causing steroid 21-hydroxylase deficiency
Open accessAbstract
We determined the sequence of a mutant CYP21B gene isolated from a patient with the severe, "salt-wasting" form of congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. Codon 318 in this gene is changed from CAG, encoding glutamine, to TAG, a nonsense codon. This is predicted to result in a completely nonfunctional enzyme due to premature termination of translation. In addition, when the cloned mutant gene was transfected into mouse Y1 adrenal cells, the resulting mRNA levels were decreased compared with transfected normal CYP21B genes. This mutation was carried by 3 of 20 unrelated patients with 21-hydroxylase deficiency alleles as determined by hybridization with a specific oligonucleotide probe. This mutation is also seen in the normal CYP21A pseudogene, so that its presence in the abnormal CYP21B gene may be the result of a gene conversion event.
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“Occasionally a breakpoint occurs in the TNX genes, leading to complete deletion of C4B and CYP21A2, and a TNXB/TNXA chimeric gene (149,150,189).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [150]
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Cites
DNA sequencing with chain-terminating inhibitors
Sanger, F., Nicklen, S., & Coulson, A. R. (1977) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.74.12.5463 · Cited by 68,572
Detection of specific sequences among DNA fragments separated by gel electrophoresis
Southern, E. M. (1975) · Journal of Molecular Biology · doi:10.1016/s0022-2836(75)80083-0 · Cited by 32,245
Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease
Chirgwin, J. M., Przybyla, A., MacDonald, R. J., & Rutter, W. J. (1979) · Biochemistry · doi:10.1021/bi00591a005 · Cited by 21,460
[2] New M13 vectors for cloning
Messing, J. W. (1983) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/0076-6879(83)01005-8 · Cited by 5,240
Screening λgt Recombinant Clones by Hybridization to Single Plaques in Situ
Benton, W. D., & Davis, R. W. (1977) · Science · doi:10.1126/science.322279 · Cited by 4,520
Buffer gradient gels and 35S label as an aid to rapid DNA sequence determination.
Biggin, M. D., Gibson, T. J., & Hong, G. F. (1983) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.80.13.3963 · Cited by 2,320
Davis, R. W., Botstein, D., & Roth, J. R. (1980) · Cold Spring Harbor Laboratory eBooks · Cited by 2,232
Lambda replacement vectors carrying polylinker sequences
Frischauf, A., Lehrach, H. R., Poustka, A., & Murray, N. E. (1983) · Journal of Molecular Biology · doi:10.1016/s0022-2836(83)80190-9 · Cited by 1,685
Congenital Adrenal Hyperplasia
Speiser, P., & White, P. C. (1987) · New England Journal of Medicine · doi:10.1056/nejm198711263172211 · Cited by 1,420
Self-citationCongenital adrenal hyperplasia
Speiser, P. W., & White, P. C. (2003) · New England Journal of Medicine · doi:10.1056/nejmra021561 · Cited by 1,405
Self-citation
Research works printed but not linked: 1
- Chang, J. C., and Y. W. Kan. 1979. # thalassemia, a nonsense mutation in man. Proc. Natl. Acad. Sci. USA. 76:2886-2889.
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Sorted by citations
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Clinical and Genetic Characterization of Nonclassic 21-hydroxylase Deficiency
Speiser, P., New, M. I., & White, P. C. (1989) · Endocrine Research · doi:10.1080/07435808909039100 · Cited by 5
Self-citationWhite, P. C. (1993) · Handbook of experimental pharmacology · doi:10.1007/978-3-642-77763-9_45 · Cited by 5
Self-citationManfras, B. J., Swinyard, M. T., Rudert, W. A., Ball, E. J., Lee, P. A., K�hnl, P., Trucco, M., & B�hm, B. O. (1993) · Human Genetics · doi:10.1007/bf00216142 · Cited by 3
Genetic Analysis of Two Japanese Patients with Non-classical 21-Hydroxylase Deficiency
Imamine, R., Arima, H., Kusakabe, M., Umeda, H., Sato, I., Homma, K., Usui, T., & Oiso, Y. (2009) · Internal Medicine · doi:10.2169/internalmedicine.48.1894 · Cited by 3
Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency
New, M. I., Lekarev, O., Jacob, M., Macdonald, A., Parsa, A. A., & Yuen, T. (2023) · Elsevier eBooks · doi:10.1016/b978-0-12-821424-4.00031-9 · Cited by 4
Self-citationWells, G., & Azziz, R. (1990) · Fertility and Sterility · doi:10.1016/s0015-0282(16)53939-9 · Cited by 3
Exploration of the potential of genomic editing in the treatment of congenital adrenal hyperplasia
Graves, L. E., Christina, S., Mullany, K., Alexander, I. E., & Falhammar, H. (2025) · Frontiers in Endocrinology · doi:10.3389/fendo.2025.1719376 · Cited by 2
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Lin‐Su, K., Nimkarn, S., & New, M. I. (2008) · Expert Review of Endocrinology & Metabolism · doi:10.1586/17446651.4.1.67 · Cited by 2
Self-citationSoveizi, M., Mahdieh, N., Setoodeh, A., Sayarifard, F., Abbasi, F., Bose, H. S., Rabbani, B., & Rabbani, A. (2020) · International Journal of Endocrinology · doi:10.1155/2020/4329791 · Cited by 2
Partanen, J., & Campbell, R. D. (1991) · Human Genetics · doi:10.1007/bf00201731 · Cited by 2
Maimaitiming, J., Amuti, G., Tuhuti, A., Chen, Y., Song, X., Wang, J., Alimu, A., Zhang, K., Abudounaiyimu, M., Jiang, J., et al. (2021) · Pharmacogenomics and Personalized Medicine · doi:10.2147/pgpm.s297607 · Cited by 1
Choudhary, A., Spigland, N., Poppas, D. P., Kovanlıkaya, A., & Nimkarn, S. (2012) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2012.08.026 · Cited by 1
Congenital Adrenal Hyperplasia – The Main Effect of 21-Hydroxylase Deficiency
Carvalho, B., Carvalho, F., & Carvalho, D. M. (2022) · IntechOpen eBooks · doi:10.5772/intechopen.107092 · Cited by 1
Haji, M., Ogo, A., Ōhashi, M., Sekiya, K., Takayanagi, R., TAKAYAMA, K., Kumazawa, J., & Nawata, H. (1990) · Endocrinologia Japonica · doi:10.1507/endocrj1954.37.841 · Cited by 1
21-Hydroxylase Deficiency Defects and Their Phenotype
Acerini, C. L., & Hughes, I. A. (2000) · KARGER eBooks · doi:10.1159/000060838 · Cited by 1
Molecular Genetics of Steroid 21-Hydroxylase Deficiency
New, M. I., & Crawford, C. (1994) · Elsevier eBooks · doi:10.1016/b978-0-12-728960-1.50021-5 · Cited by 1
Self-citationMolekulare Grundlagen von Erkrankungen der Nebenniere
Reincke, M., Peter, M., Neumann, H. P. H., Bender, B., & Gimm, O. (2001) · Springer eBooks · doi:10.1007/978-3-642-56858-9_10
Childers, C. P. (2007) · OakTrust (Texas A&M University Libraries)
Les mécanismes moléculaires du déficit en 21-hydroxylase
Mornet, É., & Boué, A. (1990) · médecine/sciences · doi:10.4267/10608/4149
Genetic Disorders of the Adrenal Gland
Lin‐Su, K., Lekarev, O., & New, M. I. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-383834-6.00091-4
Self-citationVu, C. D., Ta, T. V., Nguyen, N., Nguyen, H.-H., Nguyen, T. K. L., Tran, T. H., & Trần, V. K. (2018) · Advances in experimental medicine and biology · doi:10.1007/5584_2018_300
Functional importance of novel nucleotide variations in the CYP21A2 gene
Michelatto, D. D. P. (2016) · doi:10.47749/t/unicamp.2016.966507
Mutações no Gene CYP21A2 Analisadas Através da Reação da Polimerase em Cadeia
Monteiro, G. M., Silva, C. V. R. D. S., de Mesquita, A. A. B., Zanotti, S. V., Monlleó, I. L., & Petroli, R. J. (2019) · Revista Portal Saúde e Sociedade · doi:10.28998/2525-4200.2019v4n1.985-993
Adrenal Glands - The Current Stage and New Perspectives of Diseases and Treatment
Păun, D. L., Cianci, P., & Restini, E. (2022) · IntechOpen eBooks · doi:10.5772/intechopen.102209 · Cited by 1
การวเคราะหการกลายพนธของยน CYP21A2 ในผปวยไทยทมภาวะพรองเอนไซม 21-ไฮดรอกซเลส
ตันติรักษ์ธรรม, น., & ยี่ทอง, ภ. (2019) · doi:10.58837/chula.the.2019.1041
CYP21A2 Gene Analysis in Southern Iranian CAH Patients and a Brief Review of the Mutation Spectrum
Zangene, D., Moravej, H., Ilkhanipoor, H., Amirhakimi, A., Afshar, Z., & Entezam, M. (2024) · Avicenna Journal of Medical Biotechnology · doi:10.18502/ajmb.v16i2.14864
Metadata
- Authors
- Globerman, H., Amor, M., Parker, K. L., New, M. I., & White, P. C.
- Affiliations
- Cornell University (US)
- Howard Hughes Medical Institute (US)
- ORCID
- White, P C
- Venue
- Journal of Clinical Investigation
- Published
- 1988-07-01
- Volume
- 82
- Issue
- 1
- Pages
- 139-144
- ISSN
- 0021-9738 (ISSN-L)
- PMC
- PMC303487
- OpenAlex
- W2038517627
- Cited by
- 130
- References
- 44
- Citations by year
- 2025: 2 · 2024: 1 · 2023: 3 · 2022: 4 · 2021: 2 · 2020: 3 · 2019: 3 · 2018: 2 · 2017: 2 · 2016: 1 · 2015: 1 · 2014: 1 · 2013: 2 · 2012: 5
- FWCI
- 3.56
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Clinical Investigation (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Charles H. Revson Foundation
- American Philosophical Society
- National Cancer Institute (CA 22507)
- National Institute of Diabetes and Digestive and Kidney Diseases (DK-37867)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD 00072)
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- 21-hydroxylase deficiency, nonsense mutation, congenital adrenal hyperplasia, salt-wasting form, premature stop codon, gene conversion
- MeSH terms
- Adrenal Hyperplasia, Congenital, Amino Acid Sequence, Base Sequence, Codon, Genes, Humans, Molecular Sequence Data, Mutation, Nucleic Acid Hybridization, Oligonucleotides, Steroid Hydroxylases, Steroid 21-Hydroxylase, Transfection
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