Abstract：
:Renal agenesis (RA) is one of the more extreme examples of congenital anomalies of the kidney and urinary tract (CAKUT). Bilateral renal agenesis is almost invariably fatal at birth, and unilateral renal agenesis can lead to future health issues including end-stage renal disease. Genetic investigations have identified several gene variants that cause RA, including EYA1, LHX1, and WT1 However, whereas compound null mutations of genes encoding α and γ retinoic acid receptors (RARs) cause RA in mice, to date there have been no reports of variants in RAR genes causing RA in humans. In this study, we carried out whole exome sequence analysis of two families showing inheritance of an RA phenotype, and in both identified a single candidate gene, GREB1L Analysis of a zebrafish greb1l loss-of-function mutant revealed defects in the pronephric kidney just prior to death, and F0 CRISPR/Cas9 mutagenesis of Greb1l in the mouse revealed kidney agenesis phenotypes, implicating Greb1l in this disorder. GREB1L resides in a chromatin complex with RAR members, and our data implicate GREB1L as a coactivator for RARs. This study is the first to associate a component of the RAR pathway with renal agenesis in humans.
journal_name
Geneticsjournal_title
Geneticsauthors
Brophy PD,Rasmussen M,Parida M,Bonde G,Darbro BW,Hong X,Clarke JC,Peterson KA,Denegre J,Schneider M,Sussman CR,Sunde L,Lildballe DL,Hertz JM,Cornell RA,Murray SA,Manak JRdoi
10.1534/genetics.117.1125subject
Has Abstractpub_date
2017-09-01 00:00:00pages
215-228issue
1eissn
0016-6731issn
1943-2631pii
genetics.117.1125journal_volume
207pub_type
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