A 30-base-pair element in the first intron of SOX9 acts as an enhancer in ATDC5

Biochemical and Biophysical Research Communications
M MorishitaT Tsukazaki

Abstract

SOX9 is a transcription factor that is essential for chondrogenesis and testis differentiation, and haploinsufficiency of SOX9 causes campomelic dysplasia, severe skeletal malformation syndrome with variably penetrant XY sex reversal. Here we demonstrate that in several cell lines that express SOX9, 30-bp element in the first intron of human SOX9 gene act as a potential enhancer in the ATDC5 chondroprogenitor cell line, despite the apparent absence of cell-specific regulatory elements within a 5.5-kb promoter region. Deletion and site-specific mutational analyses reveal that the last 12 bp of the 30-bp element are critical for transcriptional activity, while 5'-half sequences are necessary for full transactivation. Gel retardation assays indicate the possible involvement of several binding factors along the length of this element. These results suggest that functionally interdependent elements in the 30-bp enhancer region of the first intron account for basal expression levels of Sox9 in ATDC5.

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Citations

Oct 23, 2002·Genes to Cells : Devoted to Molecular & Cellular Mechanisms·Keizo FurukawaTomoo Tsukazaki
Apr 30, 2014·Proceedings of the National Academy of Sciences of the United States of America·Shin-Shiou LinChien-Chang Chen
Feb 10, 2007·Experimental Cell Research·Sonsoles Piera-VelazquezSergio A Jimenez
Aug 22, 2003·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Takashi IiokaTomoo Tsukazaki
Nov 30, 2012·Journal of Cellular Biochemistry·Yongchang Yao, Yingjun Wang
Mar 4, 2009·Osteoarthritis and Cartilage·M UshitaH Kawaguchi
Feb 1, 2015·The Journal of Immunology : Official Journal of the American Association of Immunologists·Magdalena HerováMartin Hersberger

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