PMID- 14579147
OWN - NLM
STAT- MEDLINE
DCOM- 20040412
LR  - 20181113
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 114
IP  - 2
DP  - 2004 Jan
TI  - Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 
      subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in 
      stabilizing de novo terminal rearrangements.
PG  - 198-206
AB  - Monosomy 1p36 results from a variety of chromosome rearrangements, including 
      terminal deletions, interstitial deletions, derivative chromosomes, and complex 
      rearrangements. Our previous molecular studies on a large cohort of monosomy 1p36 
      subjects suggest that a significant percentage of terminal deletions of 1p36 are 
      stabilized by the acquisition of telomeric sequences from other chromosome ends, 
      forming derivative chromosomes (i.e., "telomere capture"). However, the molecular 
      mechanism(s) that results in and/or stabilizes terminal deletions of 1p36 by 
      telomere capture is poorly understood. In this report, we have mapped the 
      translocation breakpoints in three subjects with der(1)t(1;1)(p36;q44) 
      chromosomes by fluorescence in situ hybridization (FISH). These results indicate 
      that the breakpoint locations are variable in all three subjects, with no common 
      1p deletion or 1q translocation breakpoints. In addition, sequence analysis of 
      the 1p and 1q breakpoint-containing clones did not identify homologous sequences 
      or low-copy repeats in the breakpoint regions, suggesting that nonallelic 
      homologous recombination did not play a role in mediating these rearrangements. 
      Microsatellite marker analysis indicates that two of the three derivative 
      chromosomes were formed by intra-chromosomal rearrangements. These data are 
      consistent with a number of recent reports in other model organisms that suggest 
      break-induced replication at the site of a double-strand break may act as a 
      mechanism of telomere capture by generating nonreciprocal translocations from 
      terminally deleted chromosomes. Alternative models are also discussed.
FAU - Ballif, Blake C
AU  - Ballif BC
AD  - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 
      TX 77030, USA.
FAU - Wakui, Keiko
AU  - Wakui K
FAU - Gajecka, Marzena
AU  - Gajecka M
FAU - Shaffer, Lisa G
AU  - Shaffer LG
LA  - eng
GR  - P01 HD 39420/HD/NICHD NIH HHS/United States
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
DEP - 20031025
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 0 (DNA Probes)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - *Chromosome Aberrations
MH  - Chromosome Banding
MH  - Chromosome Disorders
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 1/*genetics
MH  - Cytogenetic Analysis/methods
MH  - DNA/genetics
MH  - DNA Probes
MH  - DNA Replication/genetics
MH  - *Gene Deletion
MH  - Gene Rearrangement
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Monosomy/*genetics
MH  - Repetitive Sequences, Nucleic Acid/genetics
MH  - Telomere/*genetics
MH  - *Translocation, Genetic
EDAT- 2003/10/28 05:00
MHDA- 2004/04/13 05:00
CRDT- 2003/10/28 05:00
PHST- 2003/05/16 00:00 [received]
PHST- 2003/08/12 00:00 [accepted]
PHST- 2003/10/28 05:00 [pubmed]
PHST- 2004/04/13 05:00 [medline]
PHST- 2003/10/28 05:00 [entrez]
AID - 10.1007/s00439-003-1029-y [doi]
PST - ppublish
SO  - Hum Genet. 2004 Jan;114(2):198-206. doi: 10.1007/s00439-003-1029-y. Epub 2003 Oct 
      25.