Association of a chromosome deletion syndrome with the fragile site within the proto-oncogene CBL2

Article Abstract:

The human proto-oncogene CBL2 has a p(CCG)n repeat that is found near the folate-sensitive fragile site FRA11B. In most of the chromosomes which do not express FRA11B,the p(CCG)n repeat length (n) is eleven. When p(CCG)n repeat near the fragile site expands past certain limits, the CpG island near FRA11B is methylated. The breakpoint of the deletion in chromosome 11 in two out of five Jacobsen syndrome patients is in the region which contains FRA11B. Thus, there is an association between the expansion of the p(CCG)n repeat length in the presence of the fragile site and chromosome truncation in Jacobsen syndrome.

Causes of, Chromosome deletion

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Proto-oncogene PML controls genes devoted to MHC class I antigen presentation

Article Abstract:

Immune responses are elicited by presenting fragments of foreign antigens linked to class I molecules of the major histocompatibility complex. Such presentation needs several genes contained in the MHC to be coordinately expressed, including those encoding the proteins LMP-2 and LMP-7. A new study shows the expression of LMP-2, LMP-7, TAP-1 and TAP-2 induced by proto-oncogene product PML. It is suggested that PML malfunction may enable a tumor to evade the body's immune system.

Genetic aspects, Tumors

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Wavering on commitment

Article Abstract:

Nutt and colleagues and Rolink and colleagues have challenged current ideas on how immature cells are committed to producing specific types of progeny cells. Rolink and colleagues found that Pax5-deficient clones were able to fully reconstitute T-cell development in immunodeficient mice. Nutt and colleagues found that pre-BI cells from Pax5-deficient mice could not differentiate into B cells on IL-7 depletion, unless Pax5 expression was restored.

Lymphocytes

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