RESUMO
Protein kinase Cs (PKCs) belong to a serine/threonine kinase family, ubiquitously expressed and claimed to be involved in physiological processes including apoptosis, cell growth and differentiation. The question of the subcellular localization and activity of PKCs remains to be clarified. Here we report that nuclear PKC-delta cooperates to regulate the S-G2/M phase transition of cell cycle, apparently being associated to chromosome condensation and alignment on the metaphase plate.
Assuntos
Ciclo Celular/fisiologia , Núcleo Celular/enzimologia , Proteína Quinase C-delta/metabolismo , DNA/biossíntese , DNA/genética , Citometria de Fluxo , Fase G2 , Humanos , Imuno-Histoquímica , Células Jurkat , Linfócitos T/enzimologia , Linfócitos T/metabolismoRESUMO
VCY2 is a gene positioned within the AZFc locus of the Y chromosome, a region frequently deleted in infertile males. To investigate the involvement of this gene in idiopathic male infertility, we studied its genomic organization and localization. Analysis of the genomic structure demonstrated that the VCY2 gene is composed of 9 exons spanning 21 kb. FISH analysis on interphase nuclei with specific probes for exons 4-6, 7, and 8 demonstrated the presence of a single gene copy, and Fiber-FISH on relaxed chromatin indicated that VCY2 is located within the DAZ gene cluster. PCR, Southern blot, and FISH analysis on infertile patients with Yq microdeletions demonstrated the absence of VCY2 in all cases where deletions involved the DAZ gene, raising the question about the role of the VCY2 gene loss in the phenotype reported for DAZ-deleted patients.
Assuntos
Deleção Cromossômica , Genes , Infertilidade Masculina/genética , Cromossomo Y , Southern Blotting , Mapeamento Cromossômico , Humanos , Hibridização in Situ Fluorescente , Masculino , Dados de Sequência Molecular , Reação em Cadeia da Polimerase Via Transcriptase ReversaRESUMO
The long arm of the Y chromosome contains genes mapped in loci involved in male infertility, short stature and gonadoblastoma. However, many of these genes have not been fully characterized, and are not currently investigated in patients affected by such diseases. We report a study aimed to the genomic characterization of 5 genes mapped within the Y chromosome: BPY2, PRY, TTY1, TTY2, and VCY. Exon-intron boundaries were detected for each gene, and PCR analysis was carried out to investigate the involvement of these genes in different re-arrangements of the Y chromosome. It was found that BPY2 and PRY are lost in some infertile patients with Yq microdeletions, suggesting that they could play a role in male gametogenesis. On the other hand, these patients retain some copies of TTYI and TTY2 genes, due to the presence of copies in Yp, and of VCY, which has homologous copies on the X chromosome. On the basis of their localization, these genes could be candidate for the gonadoblastoma locus (TTY1, TTY2) and for the control growth locus (VCY).
