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Knockdown of the zebrafish sbds ortholog fully recapitulates the spectrum of developmental abnormalities observed in the human Shwachman-Bodian-Diamond syndrome.
The sbds gene function is essential for normal pancreas and myeloid development in zebrafish. Zebrafish is a model system to study sbds gene function and for evaluation of novel therapies for Shwachman-Diamond syndrome.
SBDS mutation is associated with Shwachman Diamond-Syndrome.
SBDS function is specifically required for efficient translation re-initiation into the protein isoforms C/EBPalpha (zeige CEBPA Proteine)-p30 (zeige CENPV Proteine) and C/EBPbeta (zeige CEBPB Proteine)-LIP, which is controlled by a single cis (zeige CISH Proteine)-regulatory upstream open reading frame (uORF) in the 5' untranslated regions (5' UTRs) of both mRNAs.
Association of EFL1 (zeige EFNA1 Proteine) to SBDS did not modify the affinity for GTP (zeige AK3 Proteine) but dramatically decreased that for GDP by increasing the dissociation rate of the nucleotide.
The clinical diagnosis was confirmed by detection of compound heterozygous mutations in SBDS using whole-exome sequencing: a recurrent intronic mutation causing aberrant splicing (c.258+2T>C) and a novel missense variant in a highly conserved codon (c.41A>G, p.Asn14Ser), considered to be damaging for the protein structure by in silico prediction programs
Upon EFL1 (zeige EFNA1 Proteine) binding, SBDS is repositioned around helix 69, thus facilitating a conformational switch in EFL1 (zeige EFNA1 Proteine) that displaces eIF6 (zeige EIF6 Proteine) by competing for an overlapping binding site on the 60S ribosomal subunit.
Genetic variations in exon 2 of SBDS gene do not appear to be contributing to aplastic anemia in the north Indian population.
The interaction between EFL1 (zeige EFNA1 Proteine) and SBDS was analyzed by size exclusion chromatography, gel shift assay, and isothermal titration calorimetry. The results showed that EFL1 (zeige EFNA1 Proteine) interacted directly with SBDS.
SBDS protein acts as a nucleotide exchange factor that stabilizes binding to GTP (zeige AK3 Proteine) for human GTPase (zeige RACGAP1 Proteine).
Lack of mutation in exon 2 of sbds protein in acute myeloid leukemia (zeige BCL11A Proteine) suggests this subset is unlikely to have underlying sds (zeige SDS Proteine)
We conclude that knockdown of SBDS leads to growth inhibition and defects in ribosome maturation
Deficiency of the ribosome biogenesis gene Sbds in hematopoietic stem and progenitor cells causes neutropenia in mice by attenuating lineage progression in myelocytes
Sbds genotypes correlated with phenotypes in a mouse model of Shwachman-Diamond syndrome. Defects developed specifically in the pancreata of mice, reducing growth of mice and production of digestive enzymes.
Sbds is required for osteoclastogenesis by regulating monocyte migration via Rac2 (zeige RAC2 Proteine) and osteoclast differentiation signaling downstream of RANK.
Sbds is an essential gene for early mammalian development, with an expression pattern consistent with a critical role in cell proliferation.
loss of Sbds is sufficient to induce abnormalities in hematopoiesis
The majority of Shwachman-Diamond syndrome cases are results of mutations in SBDS gene on chromosone 7q11.
This gene encodes a member of a highly conserved protein family that exists from archaea to vertebrates and plants. The encoded protein may function in RNA metabolism. Mutations within this gene are associated with Shwachman-Bodian-Diamond syndrome. An alternative transcript has been described, but its biological nature has not been determined. This gene has a closely linked pseudogene that is distally located.
ribosome maturation protein SBDS
, shwachman-Bodian-Diamond syndrome protein homolog
, shwachman-Bodian-Diamond syndrome
, Shwachman-Bodian-Diamond syndrome homolog
, protein 22A3