Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding

In a Dutch pedigree suffering from autosomal dominant nonsyndromic hearing impairment (ADNSHI), linkage was found to the locus for DFNA15, with a two-point logarithm of the odds (LOD) score of 5.1. Sequence analysis of the POU4F3 gene that is involved in DFNA15 revealed the presence of a missense mu...

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Veröffentlicht in:	Human mutation 2008-04, Vol.29 (4), p.545-554
Hauptverfasser:	Collin, Rob W.J, Chellappa, Ramesh, Pauw, Robert-Jan, Vriend, Gert, Oostrik, Jaap, van Drunen, Wendy, Huygen, Patrick L, Admiraal, Ronald, Hoefsloot, Lies H, Cremers, Frans P.M, Xiang, Mengqing, Cremers, Cor W.R.J, Kremer, Hannie
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Amino Acid Sequence Amino Acid Substitution Animals Base Sequence Binding Sites - genetics Cercopithecus aethiops COS Cells DFNA15 DNA - metabolism DNA Primers - genetics DNA‐binding domain Female Genes, Dominant Genetic Linkage Hearing Loss - genetics Hearing Loss - metabolism homeodomain Homeodomain Proteins - chemistry Homeodomain Proteins - genetics Homeodomain Proteins - metabolism Humans Male Middle Aged Models, Molecular Molecular Sequence Data Mutation, Missense nonsyndromic hearing impairment Pedigree POU4F3 POU‐specific domain Protein Structure, Tertiary Recombinant Proteins - chemistry Recombinant Proteins - genetics Recombinant Proteins - metabolism Sequence Homology, Amino Acid Subcellular Fractions - metabolism Transcription Factor Brn-3C - chemistry Transcription Factor Brn-3C - genetics Transcription Factor Brn-3C - metabolism Transcription, Genetic Transfection
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