Molecular and cytogenetic characterization of an Xp-chromosome deletion in cattle (Abstract in rivista)

Type
Label
  • Molecular and cytogenetic characterization of an Xp-chromosome deletion in cattle (Abstract in rivista) (literal)
Anno
  • 2012-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1007/s10577-012-9313-0 (literal)
Alternative label
  • De Lorenzi L., Rossi E., Genualdo V., Gimelli S., Lasagna E., Perucatti A., Iannuzzi L., Parma P. (2012)
    Molecular and cytogenetic characterization of an Xp-chromosome deletion in cattle
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • De Lorenzi L., Rossi E., Genualdo V., Gimelli S., Lasagna E., Perucatti A., Iannuzzi L., Parma P. (literal)
Pagina inizio
  • 779 (literal)
Pagina fine
  • 780 (literal)
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  • 20 (literal)
Rivista
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  • 1Department of Animal Science, Milan University, Via Celoria 2, 20133 Milan, Italy 2Medical Genetics, University of Pavia, 27100 Pavia, Italy 3National Research Council (CNR), ISPAAM, Laboratory of Animal Cytogenetics and Gene Mapping, Naples, Italy 4Department of Genetic and Laboratory Medicine, Geneva University Hospital, 1211 Geneva 14, Switzerland 5Department of Applied Biology, Perugia University, Borgo XX Giugno, 74,06121 Perugia, Italy. (literal)
Titolo
  • Molecular and cytogenetic characterization of an Xp-chromosome deletion in cattle (literal)
Abstract
  • In mammals male subjects have only one X with its linked genes, while female subjects have two X and two copies of linked genes. In cattle X chromosome sequence is about 148.8 Mb long with 521 RefSeq annotated genes (BosTau6 genome ssembly). In female bovine X monosomy condition seems to be unusual as till now only one case has been described (Prakash et al., 1995). In this work we report the molecular and cytogenetic characterization of a large deletion into Xp arm in a young cow that involves around 38.4 Mb of X chromosome sequence but, even though a great deal of genes is lost, all of them are involved on inactivation process. We revealed the presence of both only one normal X chromosome and a large sub-telocentric chromosome without chimeric constitution. FISH analyses, performed using specific cattle BACs mapping on both Xq and Xp arms, pointed out that the large sub-telocentric chromosome was an abnormal X chromosome with a genomic not interstitial deletion. Telomeric probes coupled with a Xq specific BAC emphasized the presence of telomeres on Xp-del with FITC-signals stronger than those produced on the normal X. Moreover, we noticed that the deleted X chromosome was always the inactivated one by analysis of X inactivation by using RBA-banding. CGH array analyses pointed out that the deletion involves the Xp arm from telomere to bp 39.449.125- 39.467.501, referred to BosTau6 cattle genome assembly while SNP analyses (SNP rs29024121) allowed us to define the maternal origin of the deletion since the wild type X derives from the father. (literal)
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