Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Transcription factor AP-2-alpha

The TFAP2A gene encodes a transcription factor. Mutations cause autosomal dominant branchiooculofacial syndrome (BOFS).

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research 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:

Branchio-oculo-facial syndrome
TFAP2A

References:

1.

Fielding DW et. al. (1992) Recurrence of orbital cysts in the branchio-oculo-facial syndrome.

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2.

Gaynor RB et. al. (1991) Localization of the gene for the DNA-binding protein AP-2 to human chromosome 6p22.3-pter.

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3.

Mitchell PJ et. al. (1987) Positive and negative regulation of transcription in vitro: enhancer-binding protein AP-2 is inhibited by SV40 T antigen.

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4.

Williams T et. al. (1988) Cloning and expression of AP-2, a cell-type-specific transcription factor that activates inducible enhancer elements.

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5.

Lin AE et. al. (1995) Further delineation of the branchio-oculo-facial syndrome.

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6.

Bauer R et. al. (1994) The genomic structure of the human AP-2 transcription factor.

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7.

Buettner R et. al. (1993) An alternatively spliced mRNA from the AP-2 gene encodes a negative regulator of transcriptional activation by AP-2.

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8.

Schorle H et. al. (1996) Transcription factor AP-2 essential for cranial closure and craniofacial development.

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9.

Zhang J et. al. (1996) Neural tube, skeletal and body wall defects in mice lacking transcription factor AP-2.

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10.

Williamson JA et. al. (1996) Chromosomal mapping of the human and mouse homologues of two new members of the AP-2 family of transcription factors.

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11.

Warren G et. al. (1996) Physical and genetic localization of the gene encoding the AP-2 transcription factor to mouse chromosome 13.

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12.

Davies AF et. al. (1999) An interstitial deletion of 6p24-p25 proximal to the FKHL7 locus and including AP-2alpha that affects anterior eye chamber development.

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13.

Lin AE et. al. (2000) Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome.

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14.

Zhu CH et. al. (2001) Expression of AP-2 alpha in SV40 immortalized human lung fibroblasts is associated with a distinct pattern of cytosine methylation in the AP-2 alpha promoter.

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15.

Cheng YH et. al. (2003) Identification of an enhancer of the human activating protein-2alpha gene that contains a critical Ets1 binding site.

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16.

Lim JH et. al. (2005) AP-2alpha selectively regulates fragile X mental retardation-1 gene transcription during embryonic development.

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17.

Milunsky JM et. al. (2008) TFAP2A mutations result in branchio-oculo-facial syndrome.

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18.

Tekin M et. al. (2009) A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child.

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19.

Gestri G et. al. (2009) Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.

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20.

Bassett EA et. al. (2010) AP-2alpha knockout mice exhibit optic cup patterning defects and failure of optic stalk morphogenesis.

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21.

Reiber J et. al. (2010) Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome.

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22.

Zarelli VE et. al. (2013) Inhibition of neural crest formation by Kctd15 involves regulation of transcription factor AP-2.

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23.

Montagnac G et. al. (2013) αTAT1 catalyses microtubule acetylation at clathrin-coated pits.

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Update: Sept. 26, 2018