Abnormal cellular localization of thyroglobulin mRNA associated with hereditary congenital goiter and thyroglobulin deficiency.
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چکیده
منابع مشابه
Two abnormal thyroglobulin-like polypeptides are produced from Afrikander cattle congenital goiter mRNA.
In vitro translation of the mRNA from the congenital goiter tissue of Afrikander cattle directs the synthesis of two (Mr congruent to 250,000 and congruent to 75,000, respectively) abnormal thyroglobulin-like polypeptides. Common features of these polypeptides are the following: 1) both are immunoprecipitated by purified, anti-thyroglobulin antibody; 2) the signal sequence is present on their n...
متن کاملNew insights into thyroglobulin pathophysiology revealed by the study of a family with congenital goiter.
CONTEXT Thyroglobulin (TG) gene mutations cause congenital hypothyroidism (CH) with goiter. A founder effect has been proposed for some frequent mutations. Mutated proteins have a defect in intracellular transport causing intracellular retention with ultrastructural changes that resemble an endoplasmic reticulum storage disease. OBJECTIVE To reveal new aspects of thyroglobulin pathophysiology...
متن کاملEndemic goiter due to thyroglobulin gene abnormality and social ostracism.
Endemic goiter is clustered occurrences of goiter affecting more than 10% of the population in particular regions. The majority cases are attributed to environmental factors such as iodine deficiency, or food and water containing goiter-causing agents called goitrogens. We report a new type of endemic goiter where the basic abnormality was not due to environment factors, but to thyroglobulin ge...
متن کاملThe congenital goiter mutation is linked to the thyroglobulin gene in the mouse.
Rat thyroglobulin (TG) cDNA clones were used to identify DNA restriction fragment variants among inbred mouse strains. One of these variants was shown to be closely linked to the recessive mutation congenital goiter (cog), which had previously been mapped to mouse chromosome 15. These results indicate that the structural gene for thyroglobulin is on chromosome 15 and suggest that a mutation at ...
متن کاملThyroglobulin gene mutations in congenital hypothyroidism.
Human thyroglobulin (TG) gene is a single copy gene, 270 kb long, that maps on chromosome 8q24.2-8q24.3 and contains an 8.5-kb coding sequence divided into 48 exons. TG is exclusively synthesized in the thyroid gland and represents a highly specialized homodimeric glycoprotein for thyroid hormone biosynthesis. Mutations in the TG gene lead to permanent congenital hypothyroidism. The presence of...
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ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences
سال: 1978
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.75.1.74