PMID- 10523519
OWN - NLM
STAT- MEDLINE
DCOM- 19991202
LR  - 20190607
IS  - 1088-9051 (Print)
IS  - 1088-9051 (Linking)
VI  - 9
IP  - 10
DP  - 1999 Oct
TI  - Extreme reduction of chromosome-specific alpha-satellite array is unusually 
      common in human chromosome 21.
PG  - 895-908
AB  - Human centromeres contain large arrays of alpha-satellite DNA that are thought to 
      provide centromere function. The arrays show size and sequence variation, but the 
      extent to which extremely low levels of this DNA can occur on normal centromeres 
      is unclear. Using a set of chromosome-specific alpha-satellite probes for each of 
      the human chromosomes, we performed interphase fluorescence in situ hybridization 
      (FISH) in a population-screening study. Our results demonstrate that extreme 
      reduction of chromosome-specific alpha satellite is unusually common in 
      chromosome 21 (screened with the alphaRI probe), with a prevalence of 3.70%, 
      compared to < or =0.12% for each of chromosomes 13 and 17, and 0% for the other 
      chromosomes. No analphoid centromere was identified in >17,000 morphologically 
      normal chromosomes studied. All of the low-alphoid centromeres are fully 
      functional as indicated by their mitotic stability and binding to centromere 
      proteins CENP-B, CENP-C, and CENP-E. Sensitive metaphase FISH analysis of the 
      low-alphoid chromosome 21 centromeres established the presence of residual 
      alphaRI as well as other non-alphaRI alpha-satellite DNA suggesting that 
      centromere function may be provided by (1) the residual alphaRI DNA, (2) other 
      non-alphaRI alpha-satellite sequences, (3) a combination of 1 and 2, or (4) an 
      activated neocentromere DNA. The low-alphoid centromeres, in particular those of 
      chromosome 21, should provide unique opportunities for the study of the evolution 
      and the minimal DNA requirement of the human centromere.
FAU - Lo, A W
AU  - Lo AW
AD  - The Murdoch Institute, Royal Children's Hospital, Parkville, Victoria 3052, 
      Australia.
FAU - Liao, G C
AU  - Liao GC
FAU - Rocchi, M
AU  - Rocchi M
FAU - Choo, K H
AU  - Choo KH
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Genome Res
JT  - Genome research
JID - 9518021
RN  - 0 (Autoantigens)
RN  - 0 (CENPB protein, human)
RN  - 0 (Centromere Protein B)
RN  - 0 (Chromosomal Proteins, Non-Histone)
RN  - 0 (DNA, Satellite)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (Genetic Markers)
RN  - 0 (centromere protein C)
RN  - 0 (centromere protein E)
SB  - IM
MH  - *Autoantigens
MH  - Cell Line
MH  - *Centromere
MH  - Centromere Protein B
MH  - Chromosomal Proteins, Non-Histone/analysis
MH  - Chromosomes, Human, Pair 13
MH  - *Chromosomes, Human, Pair 21
MH  - Cohort Studies
MH  - *DNA, Satellite
MH  - DNA-Binding Proteins/analysis
MH  - Down Syndrome/genetics
MH  - Genetic Markers
MH  - Humans
MH  - Immunohistochemistry
MH  - In Situ Hybridization, Fluorescence
MH  - Interphase
MH  - Metaphase
EDAT- 1999/10/19 00:00
MHDA- 1999/10/19 00:01
CRDT- 1999/10/19 00:00
PHST- 1999/10/19 00:00 [pubmed]
PHST- 1999/10/19 00:01 [medline]
PHST- 1999/10/19 00:00 [entrez]
AID - 10.1101/gr.9.10.895 [doi]
PST - ppublish
SO  - Genome Res. 1999 Oct;9(10):895-908. doi: 10.1101/gr.9.10.895.