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A second human calcitonin/CGRP gene.

P H Steenbergh, J W Höppener, J Zandberg

    FEBS Letters
    |April 22, 1985
    PubMed
    Summary
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    Researchers discovered a second calcitonin (CT) gene in humans. This gene expresses a novel calcitonin gene-related peptide (CGRP) variant, also found in medullary thyroid carcinoma.

    Area of Science:

    • Genetics
    • Endocrinology
    • Molecular Biology

    Background:

    • The calcitonin (CT) gene exhibits tissue-specific alternative expression, yielding the hormone CT in the thyroid and the neuropeptide calcitonin gene-related peptide (CGRP) in the brain.
    • Medullary thyroid carcinoma is characterized by the co-production of both CT and CGRP peptides.

    Purpose of the Study:

    • To investigate the potential existence of additional CT genes in the human genome.
    • To identify and characterize novel CGRP variants expressed in human medullary thyroid carcinoma.

    Main Methods:

    • Genomic analysis to identify novel CT gene sequences.
    • Expression analysis in medullary thyroid carcinoma tissue to confirm gene product presence.
    • Peptide sequencing to determine the amino acid differences in the novel CGRP variant.

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    Main Results:

    • Evidence for a second CT gene in the human genome was established.
    • This second CT gene is expressed in human medullary thyroid carcinoma.
    • A second human CGRP variant was identified, differing from the known CGRP by 3 amino acids out of 37.

    Conclusions:

    • The human genome contains at least two distinct CT genes.
    • A novel CGRP variant, distinct from the previously known form, is encoded by this second CT gene.
    • The discovery provides new insights into the molecular basis of medullary thyroid carcinoma and CGRP biology.