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SIX homeobox 5

SIX5, DMAHP, DM locus-associated homeodomain protein
The protein encoded by this gene is a homeodomain-containing transcription factor that appears to function in the regulation of organogenesis. This gene is located downstream of the dystrophia myotonica-protein kinase gene. Mutations in this gene are a cause of branchiootorenal syndrome type 2. [provided by RefSeq, Jul 2009] (from NCBI)
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Top mentioned proteins: DM2, BOP, Six1, Six4, CAN
Papers on SIX5
Epigenetics of the myotonic dystrophy-associated DMPK gene neighborhood.
Ehrlich et al., New Orleans, United States. In Epigenomics, Jan 2016
MATERIALS & METHODS: At DMPK and its flanking genes (DMWD, SIX5, BHMG1 and RSPH6A), we analyzed many epigenetic and transcription profiles from myoblasts, myotubes, skeletal muscle, heart and 30 nonmuscle samples.
The AVR2-SIX5 gene pair is required to activate I-2-mediated immunity in tomato.
Takken et al., Amsterdam, Netherlands. In New Phytol, Oct 2015
lycopersici (Fol) we identified a pair of effector gene candidates, AVR2-SIX5, whose expression is controlled by a shared promoter.
Uncovering the Role of Hypermethylation by CTG Expansion in Myotonic Dystrophy Type 1 Using Mutant Human Embryonic Stem Cells.
Eiges et al., Jerusalem, Israel. In Stem Cell Reports, Sep 2015
CTG repeat expansion in DMPK, the cause of myotonic dystrophy type 1 (DM1), frequently results in hypermethylation and reduced SIX5 expression.
The effector repertoire of Fusarium oxysporum determines the tomato xylem proteome composition following infection.
Takken et al., Amsterdam, Netherlands. In Front Plant Sci, 2014
Of these, Six1 (Avr3), Six3 (Avr2), Six5, and Six6 are required for full virulence, denoting them as effectors.
Many obesity-associated SNPs strongly associate with DNA methylation changes at proximal promoters and enhancers.
Schiöth et al., Uppsala, Sweden. In Genome Med, 2014
Out of 107 CpG sites, 38 are located in gene promoters, including genes strongly implicated in obesity (MIR148A, BDNF, PTPMT1, NR1H3, MGAT1, SCGB3A1, HOXC12, PMAIP1, PSIP1, RPS10-NUDT3, RPS10, SKOR1, MAP2K5, SIX5, AGRN, IMMP1L, ELP4, ITIH4, SEMA3G, POMC, ADCY3, SSPN, LGR4, TUFM, MIR4721, SULT1A1, SULT1A2, APOBR, CLN3, SPNS1, SH2B1, ATXN2L, and IL27).
Branchio-oto-renal syndrome: comprehensive review based on nationwide surveillance in Japan.
Iijima et al., Kōbe, Japan. In Pediatr Int, 2014
Three causative genes for BOR syndrome have been reported thus far: EYA1, SIX1, and SIX5, but the causative genes for approximately half of all BOR patients remain unknown.
Anatomical Changes and Audiological Profile in Branchio-oto-renal Syndrome: A Literature Review.
Giacheti et al., Marília, Brazil. In Int Arch Otorhinolaryngol, 2014
Approximately 40% of the patients with the syndrome have mutations in the gene EYA1, located at chromosomal region 8q13.3, and 5% have mutations in the gene SIX5 in chromosome region 19q13.
Mutation screening of the EYA1, SIX1, and SIX5 genes in an East Asian cohort with branchio-oto-renal syndrome.
Hsu et al., Taipei, Taiwan. In Laryngoscope, 2012
In East Asian populations, a SIX1 mutation has been reported in a Japanese family with branchio-oto (BO) syndrome,yet SIX5 mutations have never been reported.
Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations.
Heidet et al., Paris, France. In Hum Mutat, 2011
Study reports a screening of 140 patients from 124 families with Branchio-oto-renal and identified 36 EYA1 mutations in 42 unrelated patients, 2 mutations, and 1 change of unknown significance in SIX1 in 3 unrelated patients, but no mutation in SIX5.
Six family genes control the proliferation and differentiation of muscle satellite cells.
Kawakami et al., Tochigi, Japan. In Exp Cell Res, 2010
Six4 and Six5 repressed, while Six1 activated myogenin expression, suggesting that the differential regulation of myogenin expression is responsible for the differential effects of Six genes
Muscleblind1, but not Dmpk or Six5, contributes to a complex phenotype of muscular and motivational deficits in mouse models of myotonic dystrophy.
Reddy et al., Los Angeles, United States. In Plos One, 2009
Muscleblind1, but not Dmpk or Six5, contributes to a complex phenotype of muscular and motivational deficits in mouse models of myotonic dystrophy
Mouse models of cataract.
Graw, München, Germany. In J Genet, 2009
In this review, several mouse models will be discussed with emphasis on the underlying genetic basis rather than the morphological features as exemplified by the following: (i) the most frequent mutations in congenital cataracts affect genes coding for gamma-crystallins (gene symbol: Cryg); (ii) some postnatal, progressive cataracts have been characterized by mutations in the beta-crystallin encoding genes (Cryb); (iii) mutations in genes coding for membrane proteins like MIP or connexins lead to congenital cataracts; (iv) mutations in genes coding for transcription factors such as FoxE3, Maf, Sox1, and Six5 cause cataracts; (v) mouse models suffering from hereditary age-related cataracts (e.g.
Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.
Hildebrandt et al., Ann Arbor, United States. In Am J Hum Genet, 2007
Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.
Transgenic mouse models for myotonic dystrophy type 1 (DM1).
Wieringa et al., Nijmegen, Netherlands. In Cytogenet Genome Res, 2002
Parallel study of DM2, a closely related form of myotonic dystrophy, has revealed a similar mechanism, but also made clear that part of the attention should remain focused on a possible role for candidate loss-of-function genes from the DM1 locus itself (like DMWD, DMPK and SIX5) or elsewhere in the genome, to find explanations for clinical aspects that are unique to DM1.
CTCF-binding sites flank CTG/CAG repeats and form a methylation-sensitive insulator at the DM1 locus.
Tapscott et al., Seattle, United States. In Nat Genet, 2001
An expansion of a CTG repeat at the DM1 locus causes myotonic dystrophy (DM) by altering the expression of the two adjacent genes, DMPK and SIX5, and through a toxic effect of the repeat-containing RNA.
Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy.
Tapscott et al., Seattle, United States. In Nat Genet, 2000
We, and others, have demonstrated that repeat expansion decreases expression of the adjacent gene SIX5 (refs 7,8), which encodes a homeodomain transcription factor.
Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts.
Reddy et al., Los Angeles, United States. In Nat Genet, 2000
The genetic defect in DM is a CTG repeat expansion located in the 3' untranslated region of DMPK and 5' of a homeodomain-encoding gene, SIX5 (formerly DMAHP; refs 2-5).
Branchiootorenal Spectrum Disorders
Smith, Seattle, United States. In Unknown Journal, 1999
Mutations can be detected in an additional 5% and 4% of individuals with the clinical diagnosis of BOR/BOS by molecular genetic testing of SIX5 (BOR2) and SIX1 (BOR3, BOS3), respectively.
Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP.
Tapscott et al., Seattle, United States. In Nat Genet, 1997
Here we report that the hypersensitive site contains an enhancer element that regulates transcription of the adjacent DMAHP homeobox gene.
Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene.
Moxley et al., Rochester, United States. In Nat Genet, 1997
An interesting candidate flanking gene is DMAHP, a recently discovered homeodomain-encoding gene.
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