Disease relevance of Hira

• We report here the isolation of several murine embryonic cDNAs of the DiGeorge syndrome candidate gene HIRA [1].

High impact information on Hira

• Targeted mutagenesis of the Hira gene results in gastrulation defects and patterning abnormalities of mesoendodermal derivatives prior to early embryonic lethality [2].
• Mapping of the Tuple1 gene to mouse chromosome 16A-B1 [3].
• Assignment of the gene for a ubiquitin fusion degradation protein (Ufd1l) to mouse chromosome 16B1-B4, syntenic with the Tuple1 gene [4].

Biological context of Hira

• Since many of the structures affected in DiGeorge syndrome derive from these Hira expressing cell populations we propose that haploinsufficiency of HIRA contributes to at least some of the features of the DiGeorge phenotype [1].

Analytical, diagnostic and therapeutic context of Hira

• Whole mount in situ hybridization of mouse embryos at various stages of development show that Hira is ubiquitously expressed [1].

References