Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

SIX-Homeobox 1

Das SIX1-Gen kodiert einen Transkriptionsfaktor. Mutationen zeichnen für das Branchiootische Syndrom Typ 3 verantwortlich. Auch die autosomal dominante Schwerhörigkeit vom Typ 23 wird diesem Gen zugeordnet.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Branchiootische Syndrom Typ 3
SIX1

Referenzen:

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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