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L3mbtl1 loss-of-function was associated with significant decreases in depression and and anxiety in some of the behavioral paradigms.
generation and analysis of mice after disruption of L3MBTL1
Loss of the paternally derived allele of the imprinted L3MBTL1 gene is associated with Shwachman-Diamond syndrome.
The polycomb group protein L3MBTL1 represses a SMAD5-mediated hematopoietic transcriptional program in human pluripotent stem cells.
Data indicate that germline genes, some of which drive oncogenesis in Drosophila melanogaster, are similarly ectopically activated in a wide range of human cancers.
High expression of L3MBTL1 was associated with low grade and hormone receptor-positive tumors, as well as low risk of disease recurrence and breast cancer death.
depletion of L3MBTL1 does not affect hESC self-renewal, rather it enhances differentiation toward extra-embryonic trophoblast tissues
Data suggest that the loss of L3MBTL1 contributes to the development of 20q(-) hematopoietic malignancies by inducing replicative stress, DNA damage, and genomic instability.
SET8-mediated methylation of p53 at Lys-382 promotes the interaction between L3MBTL1 and p53 in cells.
haploinsufficiency of L3MBTL1 contributes to some (20q-) myeloproliferative neoplasms, especially polycythemia vera, by promoting erythroid differentiation
The ability of TEL to repress TEL-responsive promoters is enhanced by the presence of H-L(3)MBT, an effect dependent on the H-L(3)MBT and the TEL interacting domains, which are mapped to their respective SPM/SAM domains.
represents a previously undescribed imprinted locus, a vertebrate Polycomb group gene shown to be regulated by this mechanism, and has implications for the pathogenesis of myeloid malignancies associated with 20q deletions
L3MBTL may have a role in myeloid leukemia
The MBT domain is related to protein domains that directly bind methylated histone residues and study found that L3MBTL1 MBT domains compact nucleosomal arrays dependent on mono- and dimethylation of histone H4 lysine 20 and of histone H1b lysine 26.
An unexpected mode of peptide-mediated dimerization suggests a possible mechanism for chromatin compaction by L3MBTL1
The structural and binding studies of the two modules provide insights into the molecular principles governing the decoding of lysine methylation states, thereby highlighting a methylation state-specific layer of histone mark readout.
H4K20 monomethylation and PR-SET7 are important for L3MBTL1 function
This gene represents a polycomb group gene. The encoded protein functions to regulate gene activity, likely via chromatin modification. The encoded protein may also be necessary for mitosis. Alternatively spliced transcript variants encoding different isoforms have been identified.
, L(3)mbt protein homolog
, lethal(3)malignant brain tumor-like protein 1
, l(3)mbt protein homolog
, lethal (3) malignant brain tumor l(3)
, L(3)malignant brain tumor-like protein