| Project/Area Number |
25870536
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Pediatrics
Kidney internal medicine
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| Research Institution | Tokyo Women's Medical University |
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Principal Investigator |
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| Project Period (FY) |
2013-04-01 – 2015-03-31
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| Project Status |
Completed (Fiscal Year 2014)
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| Budget Amount *help |
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2014: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
Fiscal Year 2013: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
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| Keywords | 腎臓発生 / 先天性腎尿路奇形 / 新規原因遺伝子 / 次世代シークエンサー |
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| Outline of Final Research Achievements |
Congenital Anomalies of Kidney and Urinary Tract (CAKUT) is a leading cause of end-stage renal failure in children. To understand the pathophysiology of CAKUT, finding out genes which are important for the kidney development is necessary.
1) Six2-GFP-Cre transgenic mice show no renal phenotype (+/-), and hypoplastic kidneys (-/-). We identified the insertion site of the BAC vector as Chr1: 118764600-118764900. However there is no gene in this region.
2) We performed exome sequencing in siblings of hypoplastic kidneys, and we found out that both alleles of exon 1 of Cobalamin Synthase W Domain-Containing Protein 1(CBWD1) are deleted in these siblings specifically. Other family members showed no deletion of this region. We also confirmed the deletion by PCR. We succeeded in finding out a new gene which is important for the kidney development.
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