PMID- 18257913
OWN - NLM
STAT- MEDLINE
DCOM- 20080515
LR  - 20211020
IS  - 1474-760X (Electronic)
IS  - 1465-6906 (Print)
IS  - 1474-7596 (Linking)
VI  - 9
IP  - 2
DP  - 2008
TI  - Hominoid chromosomal rearrangements on 17q map to complex regions of segmental 
      duplication.
PG  - R28
LID - 10.1186/gb-2008-9-2-r28 [doi]
AB  - BACKGROUND: Chromosomal rearrangements, such as translocations and inversions, 
      are recurrent phenomena during evolution, and both of them are involved in 
      reproductive isolation and speciation. To better understand the molecular basis 
      of chromosome rearrangements and their part in karyotype evolution, we have 
      investigated the history of human chromosome 17 by comparative fluorescence in 
      situ hybridization (FISH) and sequence analysis. RESULTS: Human bacterial 
      artificial chromosome/p1 artificial chromosome probes spanning the length of 
      chromosome 17 were used in FISH experiments on great apes, Old World monkeys and 
      New World monkeys to study the evolutionary history of this chromosome. We 
      observed that the macaque marker order represents the ancestral organization. 
      Human, chimpanzee and gorilla homologous chromosomes differ by a paracentric 
      inversion that occurred specifically in the Homo sapiens/Pan troglodytes/Gorilla 
      gorilla ancestor. Detailed analyses of the paracentric inversion revealed that 
      the breakpoints mapped to two regions syntenic to human 17q12/21 and 17q23, both 
      rich in segmental duplications. CONCLUSION: Sequence analyses of the human and 
      macaque organization suggest that the duplication events occurred in the 
      catarrhine ancestor with the duplication blocks continuing to duplicate or 
      undergo gene conversion during evolution of the hominoid lineage. We propose that 
      the presence of these duplicons has mediated the inversion in the H. sapiens/P. 
      troglodytes/G. gorilla ancestor. Recently, the same duplication blocks have been 
      shown to be polymorphic in the human population and to be involved in triggering 
      microdeletion and duplication in human. These results further support a model 
      where genomic architecture has a direct role in both rearrangement involved in 
      karyotype evolution and genomic instability in human.
FAU - Cardone, Maria Francesca
AU  - Cardone MF
AD  - Department of Genetics and Microbiology, University of Bari, Via Amendola, Bari, 
      70126, Italy. mfcardone@biologia.uniba.it
FAU - Jiang, Zhaoshi
AU  - Jiang Z
FAU - D'Addabbo, Pietro
AU  - D'Addabbo P
FAU - Archidiacono, Nicoletta
AU  - Archidiacono N
FAU - Rocchi, Mariano
AU  - Rocchi M
FAU - Eichler, Evan E
AU  - Eichler EE
FAU - Ventura, Mario
AU  - Ventura M
LA  - eng
GR  - R01 GM058815/GM/NIGMS NIH HHS/United States
GR  - HHMI/Howard Hughes Medical Institute/United States
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
DEP - 20080207
PL  - England
TA  - Genome Biol
JT  - Genome biology
JID - 100960660
SB  - IM
MH  - Animals
MH  - Cats
MH  - *Chromosome Aberrations
MH  - Chromosomes, Artificial, Bacterial/genetics
MH  - Chromosomes, Human, Pair 17/*genetics
MH  - *Evolution, Molecular
MH  - Haplorhini/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Sequence Analysis, DNA
PMC - PMC2374708
EDAT- 2008/02/09 09:00
MHDA- 2008/05/16 09:00
PMCR- 2008/02/07
CRDT- 2008/02/09 09:00
PHST- 2007/12/05 00:00 [received]
PHST- 2008/01/24 00:00 [revised]
PHST- 2008/02/07 00:00 [accepted]
PHST- 2008/02/09 09:00 [pubmed]
PHST- 2008/05/16 09:00 [medline]
PHST- 2008/02/09 09:00 [entrez]
PHST- 2008/02/07 00:00 [pmc-release]
AID - gb-2008-9-2-r28 [pii]
AID - 10.1186/gb-2008-9-2-r28 [doi]
PST - ppublish
SO  - Genome Biol. 2008;9(2):R28. doi: 10.1186/gb-2008-9-2-r28. Epub 2008 Feb 7.