The splicing pattern of PLAUR gene changes during monocyte differentiation in patients with hereditary angioedema.

BALLONOVÁ, Lucie, Přemysl SOUČEK, Peter SLANINA, Roman HAKL, Marcela VLKOVÁ a Tomáš FREIBERGER. The splicing pattern of PLAUR gene changes during monocyte differentiation in patients with hereditary angioedema. In EMBO | EMBL Symposium: The Complex Life of RNA. 2020.

Základní údaje

• Originální název: The splicing pattern of PLAUR gene changes during monocyte differentiation in patients with hereditary angioedema.
• Autoři: BALLONOVÁ, Lucie, Přemysl SOUČEK, Peter SLANINA, Roman HAKL, Marcela VLKOVÁ a Tomáš FREIBERGER.
• Vydání: EMBO | EMBL Symposium: The Complex Life of RNA, 2020.

Další údaje

• Typ výsledku: Konferenční abstrakt
• Utajení: není předmětem státního či obchodního tajemství
• Klíčová slova anglicky: alternative splicing;PLAUR;hereditary angioedema

Anotace

The PLAUR gene encoding the receptor for urokinase plasminogen activator (uPAR) is known to be alternatively spliced, but the proportion of its isoforms in human tissues and their function remain unknown. By its effect on the kallikrein-kinin system, uPAR might influence the course of a rare immune disorder called hereditary angioedema (HAE). We aimed to explore the proportion of individual PLAUR splicing isoforms in monocytes and macrophages of patients with the mild and severe form of HAE as well as healthy controls and to describe the pattern of PLAUR splicing. The results show that the PLAUR splicing pattern changes during the differentiation of monocytes in both patients and healthy controls without any apparent difference between the clinical groups. The differentiated macrophages show a considerable decrease in the proportion of variants with any exon skipping. Since all of the detected splicing isoforms with exon skipping are in frame, they could give rise to a shortened forms of uPAR protein and their function and potential role in the pathogenesis of HAE remains yet to be discovered.