Back to basics:Sox genes

Department of Neurobiology and Anatomy, University of Utah, Salt Lake City, Utah 84132, USA.
Developmental Dynamics (Impact Factor: 2.38). 08/2007; 236(8):2356-66. DOI: 10.1002/dvdy.21218
Source: PubMed

ABSTRACT Sox genes are indispensable for multiple aspects of development. This primer briefly describes shared properties of the Sox gene family, and five well-characterized examples of vertebrate developmental mechanisms governed by Sox gene subgroups: testis development, central nervous system neurogenesis, oligodendrocyte development, chondrogenesis, and neural crest cell development. Also featured is an interview about current issues in the field with experts Jonas Muhr, Ph.D. and Robert Kelsh, Ph.D.

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    • "The mechanism involving Sox17 in this regulation is still unclear. Sox transcription factors can bind specific DNA sequences but their mode of action depends on requisite partners for target specificity [35]. Through their ability to bind the minor groove of DNA, they can induce conformational changes that bring distant proteins on gene promoters closer together allowing their interaction. "
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    ABSTRACT: Liver is a major regulator of lipid metabolism and adaptation to fasting, a process involving PPARalpha activation. We recently showed that the Vnn1 gene is a PPARalpha target gene in liver and that release of the Vanin-1 pantetheinase in serum is a biomarker of PPARalpha activation. Here we set up a screen to identify new regulators of adaptation to fasting using the serum Vanin-1 as a marker of PPARalpha activation. Mutagenized mice were screened for low serum Vanin-1 expression. Functional interactions with PPARalpha were investigated by combining transcriptomic, biochemical and metabolic approaches. We characterized a new mutant mouse in which hepatic and serum expression of Vanin-1 is depressed. This mouse carries a mutation in the HMG domain of the Sox17 transcription factor. Mutant mice display a metabolic phenotype featuring lipid abnormalities and inefficient adaptation to fasting. Upon fasting, a fraction of the PPARα-driven transcriptional program is no longer induced and associated with impaired fatty acid oxidation. The transcriptional phenotype is partially observed in heterozygous Sox17+/- mice. In mutant mice, the fasting phenotype but not all transcriptomic signature is rescued by the administration of the PPARalpha agonist fenofibrate. These results identify a novel role for Sox17 in adult liver as a modulator of the metabolic adaptation to fasting.
    PLoS ONE 08/2014; 9(8):e104925. DOI:10.1371/journal.pone.0104925 · 3.23 Impact Factor
    • "Therefore, other molecular aberrations are determining the course of the disease and novel markers are urgently needed to ensure an evidence-based personalized decision-making in these patients. SOX11, a member of the SRY-related HMG-box transcription factor family plays important biological roles in cell fate determination and differentiation [8] [9] and in embryonic neurogenesis and tissue remodeling [10] [11] [12] [13] and might constitute a new tool for diagnosing MCL. "
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    ABSTRACT: Recent studies have identified SOX11 as a novel diagnostic marker for mantle cell lymphoma (MCL). We quantified SOX11 by a truly mRNA specific qPCR assay in longitudinal peripheral blood samples from 20 patients and evidenced a close relationship of SOX11 expression and clinical status of the patients. In eight patient courses we validated the expression of SOX11 using t(11;14) and demonstrated positive correlation of SOX11 and t(11;14) levels. To our knowledge this is the first report stating that quantification of SOX11 can be used as an minimal residual disease marker equal to the key translocation t(11;14) in MCL.
    Leukemia Research 08/2014; 38(8). DOI:10.1016/j.leukres.2014.04.007 · 2.35 Impact Factor
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    • "Both the SNPs disrupt regulatory motifs (FastSNP, F-SNP, and Haploreg). rs7174437 disrupts regulatory motifs of the Sox family of transcription factors (Haploreg), which play a pivotal role during development [53]. "
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    ABSTRACT: Autism spectrum conditions (ASC) are associated with deficits in social interaction and communication, alongside repetitive, restricted, and stereotyped behavior. ASC is highly heritable. The gamma-aminobutyric acid (GABA)-ergic system has been associated consistently with atypicalities in autism, in both genetic association and expression studies. A key component of the GABA-ergic system is encoded by the GABRB3 gene, which has been previously implicated both in ASC and in individual differences in empathy. In this study, 45 genotyped single nucleotide polymorphisms (SNPs) within GABRB3 were tested for association with Asperger syndrome (AS), and related quantitative traits measured through the following tests: the Empathy Quotient (EQ), the Autism Spectrum Quotient (AQ), the Systemizing Quotient-Revised (SQ-R), the Embedded Figures Test (EFT), the Reading the Mind in the Eyes Test (RMET), and the Mental Rotation Test (MRT). Two-loci, three-loci, four-loci haplotype analyses, and one seven-loci haplotype analysis were also performed in the AS case--control sample. Three SNPs (rs7180158, rs7165604, rs12593579) were significantly associated with AS, and two SNPs (rs9806546, rs11636966) were significantly associated with EQ. Two SNP-SNP pairs, rs12438141-rs1035751 and rs12438141-rs7179514, showed significant association with variation in the EFT scores. One SNP-SNP pair, rs7174437-rs1863455, was significantly associated with variation in the MRT scores. Additionally, a few haplotypes, including a 19 kb genomic region that formed a linkage disequilibrium (LD) block in our sample and contained several nominally significant SNPs, were found to be significantly associated with AS. The current study confirms the role of GABRB3 as an important candidate gene in both ASC and normative variation in related endophenotypes.
    Molecular Autism 12/2013; 4(1):48. DOI:10.1186/2040-2392-4-48 · 5.41 Impact Factor
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