A non-centromeric C band variant on chromosome 11q23.2.

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A non-centromeric C band variant on chromosome 11q23.2.

An extra G band was found inserted into chromosome 11q23.2 in a boy who had severe developmental delay and anal stenosis. Cytogenetic characterisation of this extra band showed that it was composed of Q band brilliant, C band heterochromatin. It was also present in clinically normal subjects in two other generations and was therefore presumed to be unrelated to the clinical abnormalities in the...

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The centromeric histone H3 variant (CenH3) is essential for chromosome segregation in eukaryotes. We identify posttranslational modifications of Saccharomyces cerevisiae CenH3, Cse4. Functional characterization of cse4 phosphorylation mutants shows growth and chromosome segregation defects when combined with kinetochore mutants okp1 and ame1. Using a phosphoserine-specific antibody, we show tha...

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N-terminal Sumoylation of Centromeric Histone H3 Variant Cse4 Regulates Its Proteolysis To Prevent Mislocalization to Non-centromeric Chromatin

Stringent regulation of cellular levels of evolutionarily conserved centromeric histone H3 variant (CENP-A in humans, CID in flies, Cse4 in yeast) prevents its mislocalization to non-centromeric chromatin. Overexpression and mislocalization of CENP-A has been observed in cancers and leads to aneuploidy in yeast, flies, and human cells. Ubiquitin-mediated proteolysis of Cse4 by E3 ligases such a...

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Rearrangements of chromosome band 1p36 in non-Hodgkin's lymphoma.

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variant complex chromosome translocation with chronic

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ژورنال

عنوان ژورنال: Journal of Medical Genetics

سال: 1989

ISSN: 1468-6244

DOI: 10.1136/jmg.26.8.532