Characterization of neo-centromeres in marker chromosomes lacking detectable alpha-satellite DNA

T W Depinet¹, J L Zackowski, W C Earnshaw

¹Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, OH 44106-9959, USA.

|August 1, 1997

Summary

Functional centromeres can form without detectable alpha-satellite DNA, challenging previous assumptions. This discovery reveals a new class of marker chromosomes essential for accurate chromosome segregation.

Area of Science:

Genetics
Molecular Biology
Cytogenetics

Background:

Alpha-satellite DNA is traditionally considered integral to centromere function and chromosome segregation.
Centromeres are crucial for the accurate distribution of genetic material during cell division.

Purpose of the Study:

To investigate the relationship between alpha-satellite DNA and functional centromeres.
To characterize accessory marker chromosomes lacking detectable alpha-satellite DNA.

Main Methods:

Fluorescence in-situ hybridization (FISH) to detect alpha-satellite DNA.
Analysis of accessory marker chromosomes for origin and structure using FISH and YACs.
Immunofluorescence to detect centromere proteins (CENP-B, CENP-C, CENP-E).

Main Results:

Eight accessory marker chromosomes lacked detectable pancentromeric or chromosome-specific alpha-satellite DNA via FISH.
These marker chromosomes were mitotically stable, indicating functional centromeres.
While CENP-B was absent, CENP-C and CENP-E localized to form a 'neo-centromere' on these markers.

Conclusions:

Alpha-satellite DNA, at levels detectable by FISH, is not essential for the formation of functional centromeres or chromosome segregation in this class of marker chromosomes.
A novel class of marker chromosomes lacking alpha-satellite DNA has been identified.
Centromere protein localization (CENP-C, CENP-E) defines functional centromeres independent of detectable alpha-satellite DNA.

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Characterization of neo-centromeres in marker chromosomes lacking detectable alpha-satellite DNA

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Characterization of neo-centromeres in marker chromosomes lacking detectable alpha-satellite DNA

Area of Science:

Background:

Purpose of the Study:

Main Methods:

Main Results:

Conclusions:

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