PMID- 10330122
OWN - NLM
STAT- MEDLINE
DCOM- 19990624
LR  - 20181113
IS  - 1088-9051 (Print)
IS  - 1088-9051 (Linking)
VI  - 9
IP  - 5
DP  - 1999 May
TI  - Comparative mapping of the region of human chromosome 7 deleted in williams 
      syndrome.
PG  - 428-36
AB  - Williams syndrome (WS) is a complex developmental disorder resulting from the 
      deletion of a large (approximately 1.5-2 Mb) segment of human chromosome 7q11.23. 
      Physical mapping studies have revealed that this deleted region, which contains a 
      number of known genes, is flanked by several large, nearly identical blocks of 
      DNA. The presence of such highly related DNA segments in close physical proximity 
      to one another has hampered efforts to elucidate the precise long-range 
      organization of this segment of chromosome 7. To gain insight about the structure 
      and evolutionary origins of this important and complex genomic region, we have 
      constructed a fully contiguous bacterial artificial chromosome (BAC) and 
      P1-derived artificial chromosome (PAC) contig map encompassing the corresponding 
      region on mouse chromosome 5. In contrast to the difficulties encountered in 
      constructing a clone-based physical map of the human WS region, the BAC/PAC-based 
      map of the mouse WS region was straightforward to construct, with no evidence of 
      large duplicated segments, such as those encountered in the human WS region. To 
      confirm this difference, representative human and mouse BACs were used as probes 
      for performing fluorescence in situ hybridization (FISH) to metaphase and 
      interphase chromosomes. Human BACs derived from the nonunique portion of the WS 
      region hybridized to multiple, closely spaced regions on human chromosome 
      7q11.23. In contrast, corresponding mouse BACs hybridized to a single site on 
      mouse chromosome 5. Furthermore, FISH analysis revealed the presence of 
      duplicated segments within the WS region of various nonhuman primates 
      (chimpanzee, gorilla, orangutan, and gibbon). Hybridization was also noted at the 
      genomic locations corresponding to human chromosome 7p22 and 7q22 in human, 
      chimpanzee, and gorilla, but not in the other animal species examined. Together, 
      these results indicate that the WS region is associated with large, duplicated 
      blocks of DNA on human chromosome 7q11.23 as well as the corresponding genomic 
      regions of other nonhuman primates. However, such duplications are not present in 
      the mouse.
FAU - DeSilva, U
AU  - DeSilva U
AD  - Genome Technology Branch, National Human Genome Research Institute, National 
      Institutes of Health, Bethesda, Maryland 20892, USA.
FAU - Massa, H
AU  - Massa H
FAU - Trask, B J
AU  - Trask BJ
FAU - Green, E D
AU  - Green ED
LA  - eng
GR  - R01 GM057070/GM/NIGMS NIH HHS/United States
GR  - GM57070/GM/NIGMS NIH HHS/United States
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, U.S. Gov't, Non-P.H.S.
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Genome Res
JT  - Genome research
JID - 9518021
SB  - IM
MH  - Animals
MH  - *Chromosome Deletion
MH  - Chromosome Mapping/*methods
MH  - Chromosomes, Human, Pair 7/*genetics
MH  - Contig Mapping/methods
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Mice
MH  - Williams Syndrome/*genetics
PMC - PMC310780
EDAT- 1999/05/18 00:00
MHDA- 1999/05/18 00:01
PMCR- 1999/11/01
CRDT- 1999/05/18 00:00
PHST- 1999/05/18 00:00 [pubmed]
PHST- 1999/05/18 00:01 [medline]
PHST- 1999/05/18 00:00 [entrez]
PHST- 1999/11/01 00:00 [pmc-release]
PST - ppublish
SO  - Genome Res. 1999 May;9(5):428-36.