Presence of a fragile site and interstitial telomere repeat sequences in a(Y;13) translocation

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

OSTI ID:133708

Lemieux, N; Fetni, R; Boutouil, M ^[1]

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1. Universite de Montreal, Quebec (Canada); and others

It has been proposed that the telomere repeat sequences (TTAGGG)n, when present at interstitial chromosomal locations, might promote site-specific fragility and recombinational activity. Nevertheless, in mammalians, only a few indications of such involvement of telomeric sequences have been observed. In this study, we show direct cytological evidence that a de novo interstitial telomere can cause the formation of a novel fragile site. Molecular cytogenetic studies of a de novo (Y;13) translocation, using centromeric and telomeric probes, have revealed the presence of two centromeres and interstitial telomere sequences. A fragile site was also found near the interstitial telomere loci. In this case, high-resolution cytogenetics was complemented by two-color FISH to give accurate information. Furthermore, an analysis with short arm Y chromosome DNA probes was carried out to detect possible deletion in this region, including the ZFY gene which is involved in human spermatogenesis. The Y chromosome appeared to be intact upon cytogenetic and in situ hybridization studies even for the telomeric region. Also, we observed two cells showing a normal karyotype without the Y;13 translocation suggesting the instability of this translocation. This finding shows the importance of telomere repeat sequences in translocations and other chromosome rearrangements. We are currently analyzing additional cases with similar analogies to obtain further insight on the role of telomeres and the dynamics of translocations.

• OSTI ID: 133708
• 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
CENTROMERES
CHROMOSOMAL ABERRATIONS
DNA HYBRIDIZATION
DNA SEQUENCING
FLUORESCENCE
GENE MUTATIONS
GENE RECOMBINATION
GENES
HUMAN CHROMOSOME 13
HUMAN Y CHROMOSOME
INSTABILITY
KARYOTYPE
NUCLEOTIDES
PROBES
STRUCTURE-ACTIVITY RELATIONSHIPS
TELOMERES