Disease relevance of JARID2

• During human embryogenesis, JMJ mRNAs are predominantly expressed in neurons and particularly in dorsal root ganglion cells [1].
• Evaluation of the jumonji gene and risk for spina bifida and congenital heart defects [2].

High impact information on JARID2

• Therefore, JMJ may play important roles in the down-regulation of ANF gene expression and in heart development [3].
• We identified two DNA-binding sites of JMJ in the ANF enhancer by gel mobility shift assays [3].
• We have determined the complete coding sequence of the human homologue (JMJ) and deduced the amino acid sequence of the putative protein [1].
• In view of these observations, we propose JMJ as a candidate gene for developmental defects of the central nervous system in the human [1].
• While constructing a cDNA library of human embryos, we have isolated a clone homologous to jumonji, a mouse gene required for neural tube formation [1].

Biological context of JARID2

• No other JARID2 marker displayed statistically significant allele and genotype distributions [4].
• However, we did detect a significant difference in allele distribution for a tetranucleotide repeat polymorphism in the JARID2 gene that affects an AT-rich domain [4].
• We used a case control design to analyze single nucleotide polymorphisms (SNPs) and insertion/deletion variants affecting AT-rich domains in both the DTNBP1 and JARID2 genes [4].
• Reporter gene assays using the GAL4-DNA binding domain fused to JMJ and a reporter gene consisting of the GAL4 binding sites upstream of a luciferase reporter gene indicated that JMJ functions as a powerful transcriptional repressor [5].
• Jumonji is a nuclear protein that participates in the negative regulation of cell growth [6].

Other interactions of JARID2

• DTNBP1 is immediately adjacent to JARID2, a member of the ARID (AT-rich interaction domain) family of transcription modulators [4].

References