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PMID: 1594593 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

The highest gene concentrations in the human genome are in telomeric bands of metaphase chromosomes.

Proceedings of the National Academy of Sciences of the United States of America ·Vol. 89 ·No. 11 ·1992-06-01 ·Pages 4913-7

Saccone S, De Sario A, Della Valle G, Bernardi G

Abstract

Chromosome in situ suppression hybridization has been carried out on human metaphase chromosomes to localize the G+C-richest human DNA fraction (which only represents 3.5% of the genome), as isolated by preparative equilibrium centrifugation in Cs2SO4/3,6-bis(acetatomercurimethyl)-1,4-dioxane density gradient. This fraction essentially corresponds to isochore family H3. The rationale for carrying out this experiment is that this isochore family has, by far, the highest gene concentration, the highest concentration in CpG islands, the highest transcriptional and recombinational activity, and a distinct chromatin structure. The in situ hybridization results obtained show that the H3 isochore family is localized in two coincident sets of bands of human metaphase chromosomes: telomeric bands and chromomycin A3-positive 4',6-diamidino-2-phenylindole-negative bands. This result is the first step toward a complete compositional map of the human karyotype. Because the G+C gradient across isochore families is paralleled by a gene concentration gradient, such a map has structural, functional, and evolutionary relevance.

MeSH Terms
Base Composition Chromosome Mapping Chromosomes, Human/ultrastructure Genes Humans Nucleic Acid Hybridization Telomere
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Saccone S
Dipartimento di Genetica e Microbiologia A. Buzzati-Traverso, University of Pavia, Italy.
De Sario A
Della Valle G
Bernardi G
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Article Info
Journal
Proceedings of the National Academy of Sciences of the United States of America
Abbr.
Proc Natl Acad Sci U S A
ISSN
0027-8424
DOI
10.1073/pnas.89.11.4913
Published
1992-06-01
Pages
4913-7
Language
English
Region
United States
NLM ID
7505876
PMCID
PMC49198
Subset
IM
External Links
PubMed source DOI: 10.1073/pnas.89.11.4913 PMC Full Text View journal details
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