Genome-wide approaches for CAKUT to understand molecular mechanisms of human renal development

2014 Fiscal Year Final Research Report

• Project/Area Number: 25860862
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Pediatrics
• Research Institution: Kobe University
• Principal Investigator: SHONO Akemi 神戸大学, 医学(系)研究科(研究院), 技術補佐員 (10535066)
• Project Period (FY): 2013-04-01 – 2015-03-31
• Keywords: 腎尿路奇形 / CAKUT / 腎発生 / 腎系譜 / 網羅的遺伝子解析 / 次世代シークエンサー解析 / 腎再生 / 分化誘導

Outline of Final Research Achievements

This study was approved by the ethics committee of Kobe University and the informed consents were obtained from all participants. Here we report three major results from 2013 to 2014 as shown in below.
1) Two hundred six cases including 115 cases from 105 families of syndromic CAKUT and 91 cases from 82 families of non-syndromic CAKUT, together with some indistinguishable cases from CAKUT, were collected and classified by the clinical phenotypes. 2) Responsible genes and genetic regions for 62 cases from 44 families were identified using the Sanger sequencing in combination with the next generation sequencing (NGS) and the DNA microarray. 3) Further NGS approach using a CAKUT-specific panel we originally developed was helpful to identify responsible/candidate genes which were unpredictable from the clinical phenotypes.

Free Research Field

腎臓発生・再生