Document Detail

A chromosome 13-specific human satellite I DNA subfamily with minor presence on chromosome 21: further studies on Robertsonian translocations.
MedLine Citation:
PMID:  8486347     Owner:  NLM     Status:  MEDLINE    
We describe a new human satellite I DNA subfamily (pTRI-6) which is composed of 72 copies of monomeric repeating units of 42 basepairs (bp). These repeating units are tandemly organized into a higher order structure of 2.97 kilobases (kb). Sequencing of this DNA revealed base substitutions, deletions and insertions, and an overall conservation of 85% among the monomers. The sequence has a high AT content of 77%. Under low-stringency in situ hybridization conditions, satellite I is found on the pericentric regions of chromosomes 3 and 4 and on all the acrocentric chromosomes. On the acrocentric chromosomes, satellite I is further detected on the distal p13 region. Analysis of somatic cell hybrids under high stringency indicates the presence of the pTRI-6 subfamily predominantly on chromosome 13. Chromosome 21 shows a 50- to 100-fold reduced amount of this subfamily and the presence of other sequences closely related to pTRI-6. Investigation of a group of 11 human t(14q21q) Robertsonian translocations revealed the retention of satellite I DNA around the breakpoints in all cases. These results extend our understanding of these translocations and of the general structural organization of the cen-pter regions of the acrocentric chromosomes.
P Kalitsis; E Earle; B Vissel; L G Shaffer; K H Choo
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Genomics     Volume:  16     ISSN:  0888-7543     ISO Abbreviation:  Genomics     Publication Date:  1993 Apr 
Date Detail:
Created Date:  1993-06-04     Completed Date:  1993-06-04     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8800135     Medline TA:  Genomics     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  104-12     Citation Subset:  IM    
Murdoch Institute for Research into Birth Defects, Royal Children's Hospital, Melbourne, Victoria, Australia.
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MeSH Terms
Base Sequence
Chromosomes, Human, Pair 13*
Chromosomes, Human, Pair 17*
Cloning, Molecular
Conserved Sequence
DNA / genetics
DNA, Satellite / genetics*
Hybrid Cells
In Situ Hybridization, Fluorescence
Molecular Sequence Data
Repetitive Sequences, Nucleic Acid
Restriction Mapping
Translocation, Genetic*
Reg. No./Substance:
0/DNA, Satellite; 9007-49-2/DNA

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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