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Homologous alpha satellite sequences on human acrocentric chromosomes with selectivity for chromosomes 13, 14, and 21: implications for recombination between nonhomologues and Robertsonian translocations

Abstract

The authors report a new subfamily of alpha satellite DNA (pTRA-2) which is found on all the human acrocentric chromosomes. The alphoid nature of the cloned DNA was established by partial sequencing. Southern analysis of restriction enzyme-digested DNA fragments from mouse/human hybrid cells containing only human chromosome 21 showed that the predominant higher-order repeating unit for pTRA-2 is a 3.9 kb structure. Analysis of a consensus in situ hybridization profile derived from 13 normal individuals revealed the localization of 73% of all centromeric autoradiographic grains over the five acrocentric chromosomes, with the following distribution: 20.4%, 21.5%, 17.1%, 7.3% and 6.5% on chromosomes 13, 14, 21, 15 and 22 respectively. An average of 1.4% of grains was found on the centromere of each of the remaining 19 nonacrocentric chromosomes. These results indicate the presence of a common subfamily of alpha satellite DNA on the five acrocentric chromosomes and suggest an evolutionary process consistent with recombination exchange of sequences between the nonhomologues. The results further suggests that such exchanges are more selective for chromosomes 13, 14 and 21 than for chromosomes 15 and 22. The possible role of centromeric alpha satellite DNA in the aetiology of 13q14q and 14q21q Robertsonian translocation involving  More>>
Publication Date:
Feb 25, 1988
Product Type:
Journal Article
Reference Number:
EDB-88-143685
Resource Relation:
Journal Name: Nucleic Acids Res.; (United Kingdom); Journal Volume: 16:4
Subject:
59 BASIC BIOLOGICAL SCIENCES; 62 RADIOLOGY AND NUCLEAR MEDICINE; HETEROCHROMOSOMES; AUTORADIOGRAPHY; DNA SEQUENCING; GENETIC MAPPING; CHROMOSOMAL ABERRATIONS; HUMAN CHROMOSOME 21; HYBRIDIZATION; MAN; MICE; NUCLEOTIDES; TRITIUM COMPOUNDS; ANIMALS; CHROMOSOMES; LABELLED COMPOUNDS; MAMMALS; MAPPING; MUTATIONS; ORGANIC COMPOUNDS; PRIMATES; RODENTS; STRUCTURAL CHEMICAL ANALYSIS; VERTEBRATES; 550401* - Genetics- Tracer Techniques; 550601 - Medicine- Unsealed Radionuclides in Diagnostics
OSTI ID:
6956337
Research Organizations:
Murdoch Institute for Research into Birth Defects, Parkville (Australia)
Country of Origin:
United Kingdom
Language:
English
Other Identifying Numbers:
Journal ID: CODEN: NARHA
Submitting Site:
JMT
Size:
Pages: 1273-1284
Announcement Date:

Citation Formats

Choo, K H, Vissel, B, Brown, R, Filby, R G, and Earle, E. Homologous alpha satellite sequences on human acrocentric chromosomes with selectivity for chromosomes 13, 14, and 21: implications for recombination between nonhomologues and Robertsonian translocations. United Kingdom: N. p., 1988. Web. doi:10.1093/nar/16.4.1273.
Choo, K H, Vissel, B, Brown, R, Filby, R G, & Earle, E. Homologous alpha satellite sequences on human acrocentric chromosomes with selectivity for chromosomes 13, 14, and 21: implications for recombination between nonhomologues and Robertsonian translocations. United Kingdom. doi:10.1093/nar/16.4.1273.
Choo, K H, Vissel, B, Brown, R, Filby, R G, and Earle, E. 1988. "Homologous alpha satellite sequences on human acrocentric chromosomes with selectivity for chromosomes 13, 14, and 21: implications for recombination between nonhomologues and Robertsonian translocations." United Kingdom. doi:10.1093/nar/16.4.1273. https://www.osti.gov/servlets/purl/10.1093/nar/16.4.1273.
@misc{etde_6956337,
title = {Homologous alpha satellite sequences on human acrocentric chromosomes with selectivity for chromosomes 13, 14, and 21: implications for recombination between nonhomologues and Robertsonian translocations}
author = {Choo, K H, Vissel, B, Brown, R, Filby, R G, and Earle, E}
abstractNote = {The authors report a new subfamily of alpha satellite DNA (pTRA-2) which is found on all the human acrocentric chromosomes. The alphoid nature of the cloned DNA was established by partial sequencing. Southern analysis of restriction enzyme-digested DNA fragments from mouse/human hybrid cells containing only human chromosome 21 showed that the predominant higher-order repeating unit for pTRA-2 is a 3.9 kb structure. Analysis of a consensus in situ hybridization profile derived from 13 normal individuals revealed the localization of 73% of all centromeric autoradiographic grains over the five acrocentric chromosomes, with the following distribution: 20.4%, 21.5%, 17.1%, 7.3% and 6.5% on chromosomes 13, 14, 21, 15 and 22 respectively. An average of 1.4% of grains was found on the centromere of each of the remaining 19 nonacrocentric chromosomes. These results indicate the presence of a common subfamily of alpha satellite DNA on the five acrocentric chromosomes and suggest an evolutionary process consistent with recombination exchange of sequences between the nonhomologues. The results further suggests that such exchanges are more selective for chromosomes 13, 14 and 21 than for chromosomes 15 and 22. The possible role of centromeric alpha satellite DNA in the aetiology of 13q14q and 14q21q Robertsonian translocation involving the common and nonrandom association of chromosomes 13 and 14, and 14 and 21 is discussed.}
doi = {10.1093/nar/16.4.1273}
journal = {Nucleic Acids Res.; (United Kingdom)}
volume = {16:4}
journal type = {AC}
place = {United Kingdom}
year = {1988}
month = {Feb}
}