Article
A mutation of the β-domain in POU1F1 causes pituitary deficiency due to dominant PIT-1β expression.
European journal of endocrinology - 21 May 2021
Suzuki Shigeru, Matsuo Kumihiro, Ito Yoshiya, Kobayashi Atsushi, Kokumai Takahide, Furuya Akiko, Ueda Osamu, Mukai Tokuo, Yano Koichi, Fujieda Kenji, Okuno Akimasa, Tanahashi Yusuke, Azuma Hiroshi
Abstract excerpt
BACKGROUND: POU1F1 encodes both PIT-1α, which plays pivotal roles in pituitary development and GH, PRL and TSHB expression, and the alternatively spliced isoform PIT-1β, which contains an insertion of 26-amino acids (β-domain) in the transactivation domain of PIT-1α due to the use of an alternative splice acceptor at the end of the first intron. PIT-1β is expressed at much lower levels than PIT-1α and represses...
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