PMID- 16570190
OWN - NLM
STAT- MEDLINE
DCOM- 20070327
LR  - 20181113
IS  - 1364-6745 (Print)
IS  - 1364-6745 (Linking)
VI  - 7
IP  - 2
DP  - 2006 May
TI  - Identification of Alu elements mediating a partial PMP22 deletion.
PG  - 119-26
AB  - Hereditary neuropathy with liability to pressure palsies (HNPP) is most 
      frequently caused by deletion of a 1.4-Mb region in chromosome 17p11.2-12 
      including the peripheral myelin protein 22 (PMP22) gene. Smaller deletions 
      partially affecting the PMP22 gene are less frequently observed. We identified in 
      a HNPP patient a deletion of the 5' region of PMP22 including non-coding exon 1, 
      coding exons 2 and 3, whereas, exons 4 and 5 were present. PMP22 exon 3- and 
      4-specific qPCR resulted in a deletion of one exon 3 allele but in the presence 
      of 2 exon 4 alleles. SNP analysis revealed the presence of heterozygosity for 
      PMP22 coding exons 4 and 5. Finally, MLPA specific for the CMT1A region defined 
      this deletion for the entire 5' region of PMP22 (exons 1, 2 and 3). These partial 
      HNPP deletions may be missed by other techniques, e.g., STR marker analysis. Alu 
      elements have been reported to mediate non-allelic recombination events. 
      Bioinformatic analysis revealed 12 Alu elements flanking in close neighbourhood 
      the estimated 40-kb deletion region as candidates for recombination events. PCR 
      primers were designed to identify a breakpoint-spanning product including the 
      respective Alu elements. PCR-driven identification of a junction fragment was 
      successful with AluJo-AluSq and AluYb9-AluSq specific primer pairs comprising the 
      same intronic region of PMP22. Sequence analysis of these breakpoint-overlapping 
      PCR fragments revealed a 29-bp motif including a chi-like sequence (GCTGG) 
      present both in the AluYb9 and the AluSq element. These data confirm that 
      low-copy repeats (LCRs) mediate non-allelic homologous recombinations (NAHR).
FAU - Matejas, Verena
AU  - Matejas V
AD  - Institute of Human Genetics, Friedrich Alexander University, Erlangen, Germany.
FAU - Huehne, Kathrin
AU  - Huehne K
FAU - Thiel, Christian
AU  - Thiel C
FAU - Sommer, Claudia
AU  - Sommer C
FAU - Jakubiczka, Sibylle
AU  - Jakubiczka S
FAU - Rautenstrauss, Bernd
AU  - Rautenstrauss B
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20060329
PL  - United States
TA  - Neurogenetics
JT  - Neurogenetics
JID - 9709714
RN  - 0 (Myelin Proteins)
RN  - 0 (PMP22 protein, human)
SB  - IM
MH  - *Alu Elements
MH  - Base Sequence
MH  - DNA Mutational Analysis
MH  - Exons
MH  - *Gene Deletion
MH  - Hereditary Sensory and Motor Neuropathy/genetics
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Molecular Sequence Data
MH  - Myelin Proteins/*genetics
EDAT- 2006/03/30 09:00
MHDA- 2007/03/28 09:00
CRDT- 2006/03/30 09:00
PHST- 2005/11/07 00:00 [received]
PHST- 2006/01/11 00:00 [accepted]
PHST- 2006/03/30 09:00 [pubmed]
PHST- 2007/03/28 09:00 [medline]
PHST- 2006/03/30 09:00 [entrez]
AID - 10.1007/s10048-006-0030-8 [doi]
PST - ppublish
SO  - Neurogenetics. 2006 May;7(2):119-26. doi: 10.1007/s10048-006-0030-8. Epub 2006 
      Mar 29.