The analysis of congenital anomalies of caudal body formation

2015 Fiscal Year Final Research Report

• Project/Area Number: 24590235
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: General anatomy (including Histology/Embryology)
• Research Institution: Wakayama Medical University
• Principal Investigator: Suzuki Kentaro 和歌山県立医科大学, 先端医学研究所, 講師 (20404345)
• Project Period (FY): 2012-04-01 – 2016-03-31
• Keywords: sirenomelia / 体幹後部形成 / Isl1 / Bmp4

Outline of Final Research Achievements

Mermaid syndrome is a developmental malformation of the caudal body characterized by leg fusion and associated anomalies of pelvic/urogenital organs including bladder, kidney, rectum and external genitalia. Despite the many clinical studies of mermaid syndrome in humans, little is known about the pathogenic developmental mechanisms that cause the complex array of phenotypes observed. Isl1Cre;Bmp4flox/flox conditional mutant mice displayed mermaid-like phenotypes including hindlimb fusion and pelvic/urogenital organ dysgenesis. Genetic lineage analyses indicated that Isl1-expressing cells contribute to both the aPCM (anterior Peri-Cloacal Mesenchyme) and the hindlimb bud. Furthermore, we show Bmp signaling is essential for the aPCM formation.

Free Research Field

発生生物学