PMID- 8589693
OWN - NLM
STAT- MEDLINE
DCOM- 19960327
LR  - 20220318
IS  - 0964-6906 (Print)
IS  - 0964-6906 (Linking)
VI  - 4
IP  - 11
DP  - 1995 Nov
TI  - A duplication/paracentric inversion associated with familial X-linked deafness 
      (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of 
      the POU3F4 gene.
PG  - 2145-50
AB  - X-linked deafness with stapes fixation (DFN3) is caused by mutations in the 
      POU3F4 gene at Xq21.1. By employing pulsed field gel electrophoresis (PFGE) we 
      identified a chromosomal aberration in the DNA of a DFN3 patient who did not show 
      alterations in the open reading frame (ORF) of POU3F4. Southern blot analysis 
      indicated that a DNA segment of 150 kb, located 170 kb proximal to the POU3F4 
      gene, was duplicated. Fluorescence in situ hybridization (FISH) analysis, PFGE, 
      and detailed Southern analysis revealed that this duplication is part of a more 
      complex rearrangement including a paracentric inversion involving the Xq21.1 
      region, and presumably the Xq21.3 region. Since at least two DFN3-associated 
      minideletions are situated proximal to the duplicated segment, the inversion most 
      likely disconnects the POU3F4 gene from a regulatory element which is located at 
      a distance of at least 400 kb upstream of the POU3F4 gene.
FAU - de Kok, Y J
AU  - de Kok YJ
AD  - Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
FAU - Merkx, G F
AU  - Merkx GF
FAU - van der Maarel, S M
AU  - van der Maarel SM
FAU - Huber, I
AU  - Huber I
FAU - Malcolm, S
AU  - Malcolm S
FAU - Ropers, H H
AU  - Ropers HH
FAU - Cremers, F P
AU  - Cremers FP
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Hum Mol Genet
JT  - Human molecular genetics
JID - 9208958
RN  - 0 (POU Domain Factors)
RN  - 0 (POU3F4 protein, human)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Blotting, Southern
MH  - *Chromosome Inversion
MH  - Chromosome Mapping
MH  - Deafness/*genetics
MH  - Electrophoresis, Gel, Pulsed-Field
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - *Multigene Family
MH  - POU Domain Factors
MH  - *Regulatory Sequences, Nucleic Acid
MH  - Transcription Factors/*genetics
MH  - Up-Regulation
MH  - *X Chromosome
EDAT- 1995/11/01 00:00
MHDA- 1995/11/01 00:01
CRDT- 1995/11/01 00:00
PHST- 1995/11/01 00:00 [pubmed]
PHST- 1995/11/01 00:01 [medline]
PHST- 1995/11/01 00:00 [entrez]
AID - 10.1093/hmg/4.11.2145 [doi]
PST - ppublish
SO  - Hum Mol Genet. 1995 Nov;4(11):2145-50. doi: 10.1093/hmg/4.11.2145.