Initial characterization of C16orf89, a novel thyroid-specific gene

Area of Science:

• Endocrinology
• Molecular Biology
• Genetics

Background:

• Thyroid hormone is crucial for fetal development, growth, and metabolism.
• While some genes involved in thyroid function are known, many remain undiscovered.
• Previous SAGE studies identified DUOX2 and IYD, essential for thyroid hormone production.

Purpose of the Study:

• To characterize the novel gene C16orf89, identified through SAGE.
• To investigate its tissue-specific expression and regulation.

Main Methods:

• Utilized novel tissue-specific SAGE libraries and quantitative PCR for expression analysis.
• Characterized the C16orf89 gene and protein structure.
• Analyzed mRNA expression during mouse development and in response to thyrotropin.

Main Results:

• C16orf89 is predominantly expressed in human thyroid tissue.
• Its expression pattern in developing mouse thyroid and lung mirrors Nkx2-1 from embryonic day 17.5.
• C16orf89 mRNA expression onset in the developing thyroid (E17.5) is similar to Slc5a5 (Nis).
• Thyrotropin stimulates C16orf89 expression in vitro.
• The major splice variant encodes a conserved, secreted, glycosylated protein lacking known functional domains.

Conclusions:

• C16orf89 is a novel gene with high thyroidal expression.
• It encodes a protein with an unknown function, presenting an enigma in thyroid biology.