Acrocentric p-arm satellite III DNA and Robertsonian Translocations

Journal Article · Thu Sep 01 04:00:00 EDT 1994 · American Journal of Human Genetics

OSTI ID:133661

Choo, K H.A.; McQuillan, C; Trowell, H E ^[1]

---

1. Murdoch Institute for Research into Birth Defects, Victoria (Australia); and others

Although all of the acrocentric chromosomes (13, 14, 15, 21 and 22) have been observed to undergo Robertsonian Translocation, the most frequent exchanges are between chromosomes 13 and 14, and between 14 and 21, with the translocation breakpoint demonstrated to occur in the proximal short arm region. It is thought that common sequences on different subsets of non-homologous acrocentric chromosomes may allow particular pairs of chromosomes to interact more frequently and predispose the chromosomes to Robertsonian Translocations. We have indentified ten new human acrocentric p-arm satellite III DNA sequences, with the following interchromosomal distribution: (1) five sequences on all the acrocentric chromosomes; (2) two sequences on chromosomes 13, 14 and 21; (3) two sequences on chromosomes 14 and 22; (4) one sequence on chromosomes 13 and 21. This provides the first evidence of complex sharing of sequences on the short arm of these chromosomes. Identical distribution profiles as observed for groups 2, 3 and 4 have also been seen in the centromeric alpha-satellite DNA of these chromosomes, suggesting the concerted evolution of two different types of DNA on the short arm and the centromeric regions of the acrocentric chromosomes. Of particular interest are the group 2 sequences which we postulate to be responsible for the t(13q14q) and t(14q21q) translocation events.

• OSTI ID: 133661
• Report Number(s): CONF-941009--
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
ACROCENTRIC CHROMOSOMES
CENTROMERES
CHROMOSOMAL ABERRATIONS
DNA
DNA SEQUENCING
HUMAN CHROMOSOME 13
HUMAN CHROMOSOME 14
HUMAN CHROMOSOME 15
HUMAN CHROMOSOME 21
HUMAN CHROMOSOME 22
STRUCTURE-ACTIVITY RELATIONSHIPS