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

Sasaki, Nobuya; Hosoda, Yayoi; Nagata, Aogu et al.

Molecular Endocrinology, 2007, 21(7), 1713-1721

Permalink : https://hdl.handle.net/2115/26433

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アクセス権
open access
URI
https://hdl.handle.net/2115/26433
タイトル
A mutation in Tpst2 encoding tyrosylprotein sulfotransferase causes dwarfism associated with hypothyroidism.
著者
Sasaki, Nobuya ; Hosoda, Yayoi ; Nagata, Aogu ; Ding, Ming ; Cheng, Ji-Ming ; Miyamoto, Tomomi ; Okano, Shinya ; Asano, Atsushi ; Miyoshi, Ichiro ; Agui, Takashi
e-Rad_Researcher
20302614
著者名
Sasaki, Nobuya
著者名
Hosoda, Yayoi
著者名
Nagata, Aogu
著者名
Ding, Ming
著者名
Cheng, Ji-Ming
著者名
Miyamoto, Tomomi
著者名
Okano, Shinya
著者名
Asano, Atsushi
著者名
Miyoshi, Ichiro
e-Rad_Researcher
00212457
著者名
Agui, Takashi
言語
英語
発行日
2007-07
出版者
The Endocrine Society
収録物名
Molecular Endocrinology
巻(号)
21(7)
ページ
1713-1721
抄録
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.
資源タイプ
学術雑誌論文
出版タイプ
Accepted Manuscript
PISSN
0888-8809
関連情報
PMID
17456791
関連情報 (isVersionOf)
出版社版DOI
https://doi.org/10.1210/me.2007-0040