Hereditary thrombocythemia due to splicing donor site mutation of THPO in a japanese family

Kimura, Hiroyuki; Onozawa, Masahiro; Hashiguchi, Junichi; Hidaka, Daisuke; Kanaya, Minoru; Matsukawa, Toshihiro; Okada, Hiromi; Kondo, Takeshi; Matsuno, Yoshihiro; Teshima, Takanori

Hereditary thrombocythemia due to splicing donor site mutation of THPO in a japanese family

Kimura, Hiroyuki; Onozawa, Masahiro; Hashiguchi, Junichi et al.

Annals of hematology, 2024, 103(1), 89-96

Permalink : https://hdl.handle.net/2115/94199

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アクセス権	open access
URI	https://hdl.handle.net/2115/94199
タイトル	Hereditary thrombocythemia due to splicing donor site mutation of THPO in a japanese family
著者	Kimura, Hiroyuki ; Onozawa, Masahiro ; Hashiguchi, Junichi ; Hidaka, Daisuke ; Kanaya, Minoru ; Matsukawa, Toshihiro ; Okada, Hiromi ; Kondo, Takeshi ; Matsuno, Yoshihiro ; Teshima, Takanori
著者名 Kimura, Hiroyuki
e-Rad_Researcher 70455632 著者名 Onozawa, Masahiro
著者名 Hashiguchi, Junichi
著者名 Hidaka, Daisuke
著者名 Kanaya, Minoru
著者名 Matsukawa, Toshihiro
著者名 Okada, Hiromi
著者名 Kondo, Takeshi
e-Rad_Researcher 00199829 著者名 Matsuno, Yoshihiro
e-Rad_Researcher 40284096 著者名 Teshima, Takanori
言語	英語
キーワード	Congenital thrombocytosis
	Thrombopoietin
	Hereditary thrombocythemia
	Exon skipping
発行日	2024-01
出版者	Springer
収録物名	Annals of hematology
巻(号)	103(1)
ページ	89-96
抄録	Thrombopoietin (THPO) is an essential factor for platelet production. Hereditary thrombocythemia (HT) is caused by a germline mutation of THPO, MPL, or JAK2 and is inherited in an autosomal-dominant manner. We identified a Japanese family with HT due to a point mutation of the splicing donor site of the THPO gene (THPO c.13 + 1G > A). Bone marrow biopsy showed increased megakaryocytes mimicking essential thrombocythemia. One affected family member developed chronic myeloid leukemia. We cloned the mutation and developed mutated and wild type THPO expression vectors. Molecular analysis showed that the mutation causes an exon 3 skipping transcript of THPO that abrogates a suppressive untranslated upstream open reading frame. Although the transcript levels of THPO mRNA were comparable, mutated transcripts were more efficiently translated and THPO protein expression was significantly higher than that of the wild type.
資源タイプ	学術雑誌論文
出版タイプ	Accepted Manuscript
権利情報	This version of the article has been accepted for publication, after peer review (when applicable) and is subject to Springer Nature’s AM terms of use, but is not the Version of Record and does not reflect post-acceptance improvements, or any corrections. The Version of Record is available online at: https://doi.org/10.1007/s00277-023-05523-9
PISSN	0939-5555
関連情報 (isVersionOf)	出版社版DOI https://doi.org/10.1007/s00277-023-05523-9