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Ribosomopathies: how a common root can cause a tree of pathologies.

Danilova N, Gazda HT - Dis Model Mech (2015)

Bottom Line: Phenotypes of ribosomopathies are mediated both by p53-dependent and -independent pathways.The current challenge is to identify differences in response to ribosomal stress that lead to specific tissue defects in various ribosomopathies.Here, we review recent findings in this field, with a particular focus on animal models, and discuss how, in some cases, the different phenotypes of ribosomopathies might arise from differences in the spatiotemporal expression of the affected genes.

View Article: PubMed Central - PubMed

Affiliation: Department of Molecular, Cell & Developmental Biology, University of California, Los Angeles, CA 90095, USA ndanilova@ucla.edu hanna.gazda@childrens.harvard.edu.

No MeSH data available.


Related in: MedlinePlus

Duplicated digits and phalanges in mice heterozygous for Rpl24. Skeletal stain of newborn forelimbs (upper) and hindlimbs (lower). Mice heterozygous for a mutation in Rpl24 (Bst/+ phenotype) show preaxial polydactyly (0) and triphalangy of the first digit (1). Figure reproduced with permission (Oliver et al., 2004).
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DMM020529F1: Duplicated digits and phalanges in mice heterozygous for Rpl24. Skeletal stain of newborn forelimbs (upper) and hindlimbs (lower). Mice heterozygous for a mutation in Rpl24 (Bst/+ phenotype) show preaxial polydactyly (0) and triphalangy of the first digit (1). Figure reproduced with permission (Oliver et al., 2004).

Mentions: Mutation of the mouse Rpl24 leads to the Belly Spot and Tail (Bst) phenotype characterized by small size, eye defects, a white ventral spot, white hind feet and various skeletal abnormalities including duplicated digits and phalanges (Fig. 1), which is similar to the anomaly noted in individuals with DBA (Oliver et al., 2004). Mutations in Rps7 also lead to skeletal malformations, ventral white spotting and eye defects (Watkins-Chow et al., 2013).Fig. 1.


Ribosomopathies: how a common root can cause a tree of pathologies.

Danilova N, Gazda HT - Dis Model Mech (2015)

Duplicated digits and phalanges in mice heterozygous for Rpl24. Skeletal stain of newborn forelimbs (upper) and hindlimbs (lower). Mice heterozygous for a mutation in Rpl24 (Bst/+ phenotype) show preaxial polydactyly (0) and triphalangy of the first digit (1). Figure reproduced with permission (Oliver et al., 2004).
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4582105&req=5

DMM020529F1: Duplicated digits and phalanges in mice heterozygous for Rpl24. Skeletal stain of newborn forelimbs (upper) and hindlimbs (lower). Mice heterozygous for a mutation in Rpl24 (Bst/+ phenotype) show preaxial polydactyly (0) and triphalangy of the first digit (1). Figure reproduced with permission (Oliver et al., 2004).
Mentions: Mutation of the mouse Rpl24 leads to the Belly Spot and Tail (Bst) phenotype characterized by small size, eye defects, a white ventral spot, white hind feet and various skeletal abnormalities including duplicated digits and phalanges (Fig. 1), which is similar to the anomaly noted in individuals with DBA (Oliver et al., 2004). Mutations in Rps7 also lead to skeletal malformations, ventral white spotting and eye defects (Watkins-Chow et al., 2013).Fig. 1.

Bottom Line: Phenotypes of ribosomopathies are mediated both by p53-dependent and -independent pathways.The current challenge is to identify differences in response to ribosomal stress that lead to specific tissue defects in various ribosomopathies.Here, we review recent findings in this field, with a particular focus on animal models, and discuss how, in some cases, the different phenotypes of ribosomopathies might arise from differences in the spatiotemporal expression of the affected genes.

View Article: PubMed Central - PubMed

Affiliation: Department of Molecular, Cell & Developmental Biology, University of California, Los Angeles, CA 90095, USA ndanilova@ucla.edu hanna.gazda@childrens.harvard.edu.

No MeSH data available.


Related in: MedlinePlus