FB2024_03 , released June 25, 2024
Human Disease Model Report: congenital heart defect (postulated), RPS24-related
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General Information
Name
congenital heart defect (postulated), RPS24-related
FlyBase ID
FBhh0001431
Disease Ontology Term
Parent Disease
OMIM
Overview

In an effort to identify genes critical to human heart development that are also expressed in other tissues, a screen for genes with cardiac-specific cis-regulatory elements was conducted in human. Identified candidate genes were assessed using orthologous genes in animal models, including Drosophila. The human ribosomal protein gene RPS24 was identified in this screen; RPS24 is also implicated in Diamond-Blackfan anemia 3 (MIM:610629).

A UAS construct of the human Hsap\RPS24 gene has been introduced into flies, but has not been characterized; a stock is available.

The orthologous ribosomal protein gene in Drosophila is RpS24. A small number of genetic reagents have been generated for Dmel\RpS24 including RNAi-targeting constructs and alleles caused by insertional mutagenesis.The RpS24 gene is haploinsufficient: heterozygous mutants display the 'Minute' phenotype, characterized by a slower developmental rate and small adult bristles. Knockdown of Dmel\RpS24 specifically in developing cardiac cells, effected by RNAi, results in detectable heart development defects in larvae and 100% lethality by the third larval instar stage.

[updated Sep. 2023 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: congenital heart defect (postulated), RPS24-related
OMIM report
Human gene(s) implicated
Symptoms and phenotype
Genetics
Cellular phenotype and pathology
Molecular information

Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. RPS24 encodes a ribosomal protein that is a component of the 40S subunit. [Gene Cards, RPS24; 2022.02.06]

External links
Disease synonyms
Search term: ribosomopathy
Ortholog Information
Human gene(s) in FlyBase
Human gene (HGNC)
D. melanogaster ortholog (based on DIOPT)
Comments on ortholog(s)

One to one: 1 human gene to 1 Drosophila gene.

Other mammalian ortholog(s) used
    D. melanogaster Gene Information (1)
    Gene Snapshot
    Ribosomal protein S24 (RpS24) encodes an essential component of the small ribosomal subunit that functions in protein synthesis. It is classified as a 'Minute' gene as heterozygous mutants exhibit a slower developmental rate and small adult bristles. [Date last reviewed: 2019-03-14]
    Molecular function (GO)
    Gene Groups / Pathways
    Comments on ortholog(s)

    High-scoring ortholog of human RPS24 (1 Drosophila to 1 human).

    Orthologs and Alignments from DRSC
    DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans
    Other Genes Used: Viral, Bacterial, Synthetic (0)
      Summary of Physical Interactions (88 groups)
      protein-protein
      Interacting group
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      References
      cosedimentation, Identification by mass spectrometry, electron microscopy
      experimental knowledge based
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      RNA-protein
      Interacting group
      Assay
      References
      cosedimentation, electron microscopy
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      Alleles Reported to Model Human Disease (Disease Ontology) (1 alleles)
      Models Based on Experimental Evidence ( 1 )
      Allele
      Disease
      Evidence
      References
      Modifiers Based on Experimental Evidence ( 0 )
      Allele
      Disease
      Interaction
      References
      Alleles Representing Disease-Implicated Variants
      Genetic Tools, Stocks and Reagents
      Sources of Stocks
      Contact lab of origin for a reagent not available from a public stock center.
      Bloomington Stock Center Disease Page
      Related mammalian, viral, bacterial, or synthetic transgenes
      Allele
      Transgene
      Publicly Available Stocks
      Selected Drosophila transgenes
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      Transgene
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      RNAi constructs available
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      Selected Drosophila classical alleles
      Allele
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      Publicly Available Stocks
      References (3)