A mutation in Tpst2 encoding tyrosylprotein sulfotransferase causes dwarfism associated with hypothyroidism

Nobuya Sasaki, Yayoi Hosoda, Aogu Nagata, Ming Ding, Ji Ming Cheng, Tomomi Miyamoto, Shinya Okano, Atsushi Asano, Ichiro Miyoshi, Takashi Agui

研究成果: Article

34 引用 (Scopus)

抜粋

The growth-retarded (grt) mouse has an autosomal recessive, fetal-onset, severe thyroid hypoplasia related to TSH hyporesponsiveness. Through genetic mapping and complementation experiments, we show that grt is a missense mutation of a highly conserved region of the tyrosylprotein sulfotransferase 2 (Tpst2) gene, encoding one of the two Tpst genes implicated in posttranslational tyrosine O-sulfation. We present evidence that the grt mutation leads to a loss of TPST2 activity, and TPST2 isoform has a high degree of substrate preference for TSH receptor (TSHR). The expression of TPST2 can restore TSH-TSHR-mediated cAMP production in fibroblasts derived from grt mice. Therefore, we propose that the tyrosine sulfation of TSHR by TPST2 is crucial for TSH signaling and resultant thyroid gland function.

元の言語English
ページ(範囲)1713-1721
ページ数9
ジャーナルMolecular Endocrinology
21
発行部数7
DOI
出版物ステータスPublished - 2007 7

ASJC Scopus subject areas

  • Molecular Biology
  • Endocrinology

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    Sasaki, N., Hosoda, Y., Nagata, A., Ding, M., Cheng, J. M., Miyamoto, T., Okano, S., Asano, A., Miyoshi, I., & Agui, T. (2007). A mutation in Tpst2 encoding tyrosylprotein sulfotransferase causes dwarfism associated with hypothyroidism. Molecular Endocrinology, 21(7), 1713-1721. https://doi.org/10.1210/me.2007-0040