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Journal articles
Sox11 gene disruption causes congenital anomalies of the kidney and urinary tract (CAKUT): SOX11 and CAKUT
Abstract : Congenital abnormalities of the kidney and the urinary tract (CAKUT) belong to the most common birth defects
in human, but the molecular basis for the majority of CAKUT patients remains unknown. Here we show that
the transcription factor SOX11 is a crucial regulator of kidney development. SOX11 is expressed in both
mesenchymal and epithelial components of the early kidney anlagen. Deletion of Sox11 in mice causes an
extension of the domain expressing Gdnf within rostral regions of the nephrogenic cord and results in duplex
kidney formation. On the molecular level SOX11 directly binds and regulates a locus control region of the
protocadherin B cluster. At later stages of kidney development, SOX11 becomes restricted to the intermediate
segment of the developing nephron where it is required for the elongation of Henle’s loop. Finally, mutation
analysis in a cohort of patients suffering from CAKUT identified a series of rare SOX11 variants, one of which
interferes with the transactivation capacity of the SOX11 protein. Taken together these data demonstrate a
key role for SOX11 in normal kidney development and may suggest that variants in this gene predispose to
CAKUT in humans
Cited literature [77 references]
https://www.hal.inserm.fr/inserm-02186166
Contributor : Andreas Schedl <>
Submitted on : Wednesday, July 17, 2019 - 10:32:01 AM
Last modification on : Tuesday, November 24, 2020 - 8:06:01 AM
Contributor : Andreas Schedl <>
Submitted on : Wednesday, July 17, 2019 - 10:32:01 AM
Last modification on : Tuesday, November 24, 2020 - 8:06:01 AM