Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

SIX homeobox 1

The protein encoded by the SIX1 gene is a is a transcription factor. Mutations in this gene cause branchiootic syndrome type 3 (BOS3) and autosomal dominant deafness type 23 (DFNA23).

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Branchiootic syndrome 3
SIX1

References:

1.

Gallardo ME et. al. (1999) Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies.

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2.

Salam AA et al. (2000) A novel locus (DFNA23) for prelingual autosomal dominant nonsyndromic hearing loss maps to 14q21-q22 in a Swiss German kindred.

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3.

Ridgeway AG et al. (2001) Pax3 is essential for skeletal myogenesis and the expression of Six1 and Eya2.

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4.

Buller C et al. (2001) Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome.

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5.

Sharp R et al. (2002) Synergism between INK4a/ARF inactivation and aberrant HGF/SF signaling in rhabdomyosarcomagenesis.

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6.

Ruf RG et al. (2003) A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3.

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7.

Li X et al. (2003) Eya protein phosphatase activity regulates Six1-Dach-Eya transcriptional effects in mammalian organogenesis.

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8.

Yu Y et al. (2004) Expression profiling identifies the cytoskeletal organizer ezrin and the developmental homeoprotein Six-1 as key metastatic regulators.

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9.

Ruf RG et al. (2004) SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.

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10.

Grifone R et al. (2004) Six1 and Eya1 expression can reprogram adult muscle from the slow-twitch phenotype into the fast-twitch phenotype.

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11.

Chai L et. al. (2006) Transcriptional activation of the SALL1 by the human SIX1 homeodomain during kidney development.

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12.

Sanggaard KM et al. (2007) Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses.

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13.

McCoy EL et al. (2009) Six1 expands the mouse mammary epithelial stem/progenitor cell pool and induces mammary tumors that undergo epithelial-mesenchymal transition.

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14.

Micalizzi DS et al. (2009) The Six1 homeoprotein induces human mammary carcinoma cells to undergo epithelial-mesenchymal transition and metastasis in mice through increasing TGF-beta signaling.

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15.

Delgado-Olguín P et al. (2012) Epigenetic repression of cardiac progenitor gene expression by Ezh2 is required for postnatal cardiac homeostasis.

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16.

Oliver G et. al. (1995) Homeobox genes and connective tissue patterning.

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17.

Boucher CA et al. (1996) Cloning of the human SIX1 gene and its assignment to chromosome 14.

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18.

Ford HL et al. (1998) Abrogation of the G2 cell cycle checkpoint associated with overexpression of HSIX1: a possible mechanism of breast carcinogenesis.

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Update: Sept. 26, 2018