Universität zu Köln

Neirijnck, Yasmine ORCID: 0000-0001-7236-8451, Reginensi, Antoine, Renkema, Kirsten Y., Massa, Filippo, Kozlov, Vladimir M., Dhib, Haroun, Bongers, Ernie M. H. F., Feitz, Wout F., van Eerde, Albertien M. ORCID: 0000-0001-5953-5956, Lefebvre, Veronique, Knoers, Nine V. A. M., Tabatabaei, Mansoureh, Schulz, Herbert, McNeill, Helen ORCID: 0000-0003-1126-5154, Schaefer, Franz, Wegner, Michael, Sock, Elisabeth ORCID: 0000-0001-9925-3136 and Schedl, Andreas ORCID: 0000-0001-9380-7396 (2018). Sox11 gene disruption causes congenital anomalies of the kidney and urinary tract (CAKUT). Kidney Int., 93 (5). S. 1142 - 1154. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1523-1755

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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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Neirijnck, Yasmine UNSPECIFIED orcid.org/0000-0001-7236-8451 UNSPECIFIED Reginensi, Antoine UNSPECIFIED UNSPECIFIED UNSPECIFIED Renkema, Kirsten Y. UNSPECIFIED UNSPECIFIED UNSPECIFIED Massa, Filippo UNSPECIFIED UNSPECIFIED UNSPECIFIED Kozlov, Vladimir M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Dhib, Haroun UNSPECIFIED UNSPECIFIED UNSPECIFIED Bongers, Ernie M. H. F. UNSPECIFIED UNSPECIFIED UNSPECIFIED Feitz, Wout F. UNSPECIFIED UNSPECIFIED UNSPECIFIED van Eerde, Albertien M. UNSPECIFIED orcid.org/0000-0001-5953-5956 UNSPECIFIED Lefebvre, Veronique UNSPECIFIED UNSPECIFIED UNSPECIFIED Knoers, Nine V. A. M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Tabatabaei, Mansoureh UNSPECIFIED UNSPECIFIED UNSPECIFIED Schulz, Herbert UNSPECIFIED UNSPECIFIED UNSPECIFIED McNeill, Helen UNSPECIFIED orcid.org/0000-0003-1126-5154 UNSPECIFIED Schaefer, Franz UNSPECIFIED UNSPECIFIED UNSPECIFIED Wegner, Michael UNSPECIFIED UNSPECIFIED UNSPECIFIED Sock, Elisabeth UNSPECIFIED orcid.org/0000-0001-9925-3136 UNSPECIFIED Schedl, Andreas UNSPECIFIED orcid.org/0000-0001-9380-7396 UNSPECIFIED
URN:	urn:nbn:de:hbz:38-187051
DOI:	10.1016/j.kint.2017.11.026
Journal or Publication Title:	Kidney Int.
Volume:	93
Number:	5
Page Range:	S. 1142 - 1154
Date:	2018
Publisher:	ELSEVIER SCIENCE INC
Place of Publication:	NEW YORK
ISSN:	1523-1755
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language TRANSCRIPTION FACTOR SOX11; BRANCHING MORPHOGENESIS; RENAL DEVELOPMENT; MAMMALIAN KIDNEY; RET; CELLS; DIFFERENTIATION; CRYPTORCHIDISM; MOUSE; BUD Multiple languages Urology & Nephrology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/18705