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Hokkaido University Collection of Scholarly and Academic Papers >
Graduate School of Veterinary Medicine / Faculty of Veterinary Medicine >
Peer-reviewed Journal Articles, etc >
A mutation in Tpst2 encoding tyrosylprotein sulfotransferase causes dwarfism associated with hypothyroidism.
| Title: | A mutation in Tpst2 encoding tyrosylprotein sulfotransferase causes dwarfism associated with hypothyroidism. |
| Authors: | Sasaki, Nobuya Browse this author →KAKEN DB | | Hosoda, Yayoi Browse this author | | Nagata, Aogu Browse this author | | Ding, Ming Browse this author | | Cheng, Ji-Ming Browse this author | | Miyamoto, Tomomi Browse this author | | Okano, Shinya Browse this author | | Asano, Atsushi Browse this author | | Miyoshi, Ichiro Browse this author | | Agui, Takashi Browse this author →KAKEN DB |
| Issue Date: | Jul-2007 |
| Publisher: | The Endocrine Society |
| Journal Title: | Molecular Endocrinology |
| Volume: | 21 |
| Issue: | 7 |
| Start Page: | 1713 |
| End Page: | 1721 |
| Publisher DOI: | 10.1210/me.2007-0040 |
| PMID: | 17456791 |
| Abstract: | 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. |
| Type: | article (author version) |
| URI: | http://hdl.handle.net/2115/26433 |
| Appears in Collections: | 獣医学院・獣医学研究院 (Graduate School of Veterinary Medicine / Faculty of Veterinary Medicine) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)
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Submitter: 安居院 高志
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