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Pregled bibliografske jedinice broj: 358277

FISH analyses of replication timing of human subtelomeric regions


Petković, Iskra
FISH analyses of replication timing of human subtelomeric regions // European Journal of Human Genetics / van Ommen G.-J.B. (ur.).
Leiden: Nature Publishing Group, 2008. str. 122-122 (poster, međunarodna recenzija, sažetak, znanstveni)


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Naslov
FISH analyses of replication timing of human subtelomeric regions

Autori
Petković, Iskra

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
European Journal of Human Genetics / Van Ommen G.-J.B. - Leiden : Nature Publishing Group, 2008, 122-122

Skup
European Human Genetics Conference 2008

Mjesto i datum
Barcelona, Spain, 31.05. -03.06.2008

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
FISH; replication; subtelomers

Sažetak
Recent studies have shown that DNA replication timing is correlated with transcriptional activity of genes. Synchronous replication of alleles was demonstrated for genes with a biallelic and asynchronous replication for those with a monoallelic mode of expression. Alteration of replication order has been associated with aneuploidy and genetic instability, while asynchronous replication with the formation of the 22q11 deletion. No data on replication timing of subtelomeric regions (SR) are available so far. SRs are highly unstable and rearrangements have been reported in ~7% of patients with mental retardation. The objective of this study was to determine the replication timing of human SR. The replication pattern of SR of chromosomes 5, 7, 8 and 20 was investigated using FISH method in lymphocytes of 4 healthy donors. At least 200 cells per probe per person were analysed. The replication status of a locus was classified as unreplicated (&#8220; s&#8221; -single signal) and replicated (&#8220; d&#8221; - doubled signal). The results showed that each SR had a characteristic timing of replication, and that 20q (ss: 47.8&#177; 3.1% ; dd: 18&#177; 1.8%) was the first of examined SRs to replicate, whereas 5q (ss: 75.9&#177; 1.8% ; dd: 4.3&#177; 0.5%) was the last (p<0.001). The analysis revealed variable level of replication synchrony of homologous SR. The frequency of sd cells hybridized with the probes for the 5p, 7p, 8q, 20q (30.1&#177; 2.6%) was significantly higher (p<0.02) compared to 5q, 7q, 8p, 20p (20.6&#177; 2.0%). These results suggest that replication pattern might contribute to the non-random involvement of specific SR in the aetiology of mental retardation

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti



POVEZANOST RADA


Projekt / tema
072-1083107-0361 - Telomere i kromosomske aberacije u patologiji dječje dobi (Petković, Iskra, MZOS - )

Ustanove
Klinika za dječje bolesti Medicinskog fakulteta

Profili:

Avatar Url Iskra Petković (autor)

Citiraj ovu publikaciju

Petković, Iskra
FISH analyses of replication timing of human subtelomeric regions // European Journal of Human Genetics / van Ommen G.-J.B. (ur.).
Leiden: Nature Publishing Group, 2008. str. 122-122 (poster, međunarodna recenzija, sažetak, znanstveni)
Petković, I. (2008) FISH analyses of replication timing of human subtelomeric regions. U: van Ommen G.-J.B. (ur.)European Journal of Human Genetics.
@article{article, author = {Petkovi\'{c}, I.}, year = {2008}, pages = {122-122}, keywords = {FISH, replication, subtelomers}, title = {FISH analyses of replication timing of human subtelomeric regions}, keyword = {FISH, replication, subtelomers}, publisher = {Nature Publishing Group}, publisherplace = {Barcelona, Spain} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE





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