POU3F4
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| Location (UCSC) | Chr X: 83.51 – 83.51 Mb | Chr X: 109.86 – 109.86 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
POU domain, class 3, transcription factor 4 is a protein that in humans is encoded by the POU3F4 gene found on the X chromosome.[5][6][7]
POU3F4 is involved in the patterning of the
Clinical significance
Genetic testing on various persons has confirmed that mutations of the POU3F4 gene cause X-linked non-syndromic deafness (DFN-3).[11] These known mutations include:
- Missense mutation causing the substitution of amino acid glycine for glutamic acid at position 216[12]
- A deletion of the POU3F4 gene and 530 more kilobases upstream[13]
- An amino acid substitution of serine for leucine (S228L) in POU3F4[13]
- Frameshift truncation and extension mutations at the POU3F4 C-terminus[14]
Physical anomalies caused by POU3F4 mutations that have been recognized by high resolution computed tomography (HRCT) and magnetic resonance imaging (MRI) include absence of the central axis of the cochlea, an abnormally wide lateral internal auditory canal and a thickened stapes footplate. These anomalies are associated with X-linked non-syndromic deafness.[15]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000196767 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000056854 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- S2CID 22846323.
- PMID 7581392.
- ^ "Entrez Gene: POU3F4 POU domain, class 3, transcription factor 4".
- PMID 1628619.
- S2CID 41009921.
- ^ Sobol SE, Teng X, Crenshaw E, III. Abnormal Mesenchymal Differentiation in the Superior Semicircular Canal of Brn4/Pou3f4 Knockout Mice. Arch Otolaryngol Head Neck Surg. 2005;131(1):41-45.
- S2CID 10519322.
- PMID 21193157.
- ^ PMID 16365218.
- S2CID 23146821.
- PMID 25175280.
Further reading
- Malik KF, Jaffe H, Brady J, Young WS (Apr 1997). "The class III POU factor Brn-4 interacts with other class III POU factors and the heterogeneous nuclear ribonucleoprotein U". Brain Research. Molecular Brain Research. 45 (1): 99–107. PMID 9105675.
- de Kok YJ, Cremers CW, Ropers HH, Cremers FP (1997). "The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: identification of a somatic mosaicism for a POU3F4 missense mutation". Human Mutation. 10 (3): 207–11. S2CID 25525442.
- Phippard D, Heydemann A, Lechner M, Lu L, Lee D, Kyin T, Crenshaw EB (Jun 1998). "Changes in the subcellular localization of the Brn4 gene product precede mesenchymal remodeling of the otic capsule". Hearing Research. 120 (1–2): 77–85. S2CID 41009921.
- Hagiwara H, Tamagawa Y, Kitamura K, Kodera K (Oct 1998). "A new mutation in the POU3F4 gene in a Japanese family with X-linked mixed deafness (DFN3)". The Laryngoscope. 108 (10): 1544–7. S2CID 44565001.
- Shimazaki T, Arsenijevic Y, Ryan AK, Rosenfeld MG, Weiss S (Jan 1999). "A role for the POU-III transcription factor Brn-4 in the regulation of striatal neuron precursor differentiation". The EMBO Journal. 18 (2): 444–56. PMID 9889200.
- Xia AP, Kikuchi T, Minowa O, Katori Y, Oshima T, Noda T, Ikeda K (Apr 2002). "Late-onset hearing loss in a mouse model of DFN3 non-syndromic deafness: morphologic and immunohistochemical analyses". Hearing Research. 166 (1–2): 150–8. S2CID 41535704.
External links
- POU3F4+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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