Disease relevance of Cenpb

• Male and female Cenpb null mice have normal body weights at birth and at weaning, but these subsequently lag behind those of the heterozygous and wild-type animals [1].
• These results indicate that Cenpb is not essential for mitosis or meiosis, although the observed weight reduction raises the possibility that Cenpb deficiency may subtly affect some aspects of centromere assembly and function, and result in reduced rate of cell cycle progression, efficiency of microtubule capture, and/or chromosome movement [1].

High impact information on Cenpb

• To resolve these uncertainties, we used targeted disruption of the Cenpb gene in mouse to study the functional significance of this protein in mitosis and meiosis [1].
• The weight and sperm content of the testes of Cenpb null mice are also significantly decreased [1].
• The African green monkey (AGM) is phylogenetically closer to humans than mice and is known to contain large amounts of alpha-satellite DNA, but there has been no report of CENP-B boxes or CENP-B in the centromere domains of its chromosomes [2].
• The amino acid sequence deduced from the cloned AGM CENP-B gene was established to be highly homologous to that of human and mouse CENP-B [2].
• Immunoblotting and DNA mobility shift analyses revealed CENP-B to be expressed in AGM cell lines [2].

Biological context of Cenpb

• Production of "revertant" mice lacking the targeted frameshift mutation but not the other components of the targeting construct corrected these differences, indicating that the observed phenotype is attributable to Cenpb gene disruption rather than a neighbouring gene effect induced by the targeting construct [3].
• Demethylation of the minor satellite DNA sequences accomplished by growing cells in the presence of the drug 5-aza-2'-deoxycytidine results in a redistribution of the CENP-B protein [4].
• Thus, both mitosis and meiosis are able to proceed normally in the absence of CENP-B [5].
• The centromere protein B (CENP-B) is a centromeric DNA/binding protein [5].
• To determine the importance of CENP-B to kinetochore assembly and function, we generated a mouse null for the cenpB gene [6].

Anatomical context of Cenpb

• Tissue in situ hybridization demonstrates high Cenpb expression in the uterine epithelium of wild-type animals [3].
• To determine whether disruption of this gene affects chromosome segregation in male germ cells, we evaluated the frequencies of disomic and diploid sperm in CENP-B heterozygous and homozygous null mice using the mouse epididymal sperm aneuploidy (m-ESA) assay, a multicolor FISH method with probes for chromosomes X, Y and 8 [7].

References