help button home button Endocrine Society JCEM
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
This Article
Right arrow Full Text (PDF)
Right arrow Submit a related Letter to the Editor
Right arrow Purchase Article
Right arrow View Shopping Cart
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow Request Copyright Permission
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Toyoda, N.
Right arrow Articles by Larsen, P. R.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Toyoda, N.
Right arrow Articles by Larsen, P. R.

Journal of Clinical Endocrinology & Metabolism, Vol 81, 2121-2124, Copyright © 1996 by Endocrine Society

ARTICLES

The structure of the coding and 5'-flanking region of the type 1 iodothyronine deiodinase (dio1) gene is normal in a patient with suspected congenital dio1 deficiency

N Toyoda, N Kleinhaus and PR Larsen
Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.

We analyzed the exon-intron structure of the human type 1 deiodinase gene (dio1) and compared it with that of a patient with suspected congenital type 1 deiodinase (D1) deficiency. The hdio1 gene is identical in exon-intron arrangement to the mouse gene, with coding sequences and a selenocysteine insertion sequence (SECIS) element contained in four exons. There were no mutations in the sequences of exons 1-4 of the patient's genomic DNA. Functional studies by transient expression techniques showed no difference in basal promoter activity or T3 responsiveness between the patient's and the normal dio1 gene. A structural abnormality in the dio1 gene is not a likely explanation for this patient's D1-deficient phenotype.


This article has been cited by other articles:


Home page
 Endocr. Rev.Home page
J. Kohrle, F. Jakob, B. Contempre, and J. E. Dumont
Selenium, the Thyroid, and the Endocrine System
Endocr. Rev., December 1, 2005; 26(7): 944 - 984.
[Abstract] [Full Text] [PDF]

Home page
 Endocr. Rev.Home page
A. C. Bianco, D. Salvatore, B. Gereben, M. J. Berry, and P. R. Larsen
Biochemistry, Cellular and Molecular Biology, and Physiological Roles of the Iodothyronine Selenodeiodinases
Endocr. Rev., February 1, 2002; 23(1): 38 - 89.
[Abstract] [Full Text] [PDF]

Home page
 EndocrinologyHome page
A. Hernández, G. J. Lyon, M. J. Schneider, and D. L. St. Germain
Isolation and Characterization of the Mouse Gene for the Type 3 Iodothyronine Deiodinase
Endocrinology, January 1, 1999; 140(1): 124 - 130.
[Abstract] [Full Text]

Home page
 EndocrinologyHome page
C.-Y. Zhang, S. Kim, J. W. Harney, and P. R. Larsen
Further Characterization of Thyroid Hormone Response Elements in the Human Type 1 Iodothyronine Deiodinase Gene
Endocrinology, March 1, 1998; 139(3): 1156 - 1163.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Endocrinology Endocrine Reviews J. Clin. End. & Metab.
Molecular Endocrinology Recent Prog. Horm. Res. All Endocrine Journals
Copyright © 1996 by The Endocrine Society