Analysis and characterisation of the mouse Hic2 gene
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vor 20 Jahren
5.1 Analysis and characterization of the mouse Hic2 gene Like Hic1
and γFBP (chicken), Hic2 cDNA coded five Krüppel-type C2H2 zinc
finger domain. Through the sequencing and comparation with
different protein sequences from the homolog proteins from
different species (HIC1, Hic1, HIC2, γFBP, and Hypothetical
protein), Hic2 protein shares more than 80% homology with HIC1
through the BTB/POZ and zinc finger domains, and both proteins have
identical GLDLSKK/R motifs. A new part of Hic2 gene coding, exon
two, and new exon one deduced full-length Hic2 protein contains 601
amino acids. Hic2 gene has two Exons (240 and 1842 bp), with one
Intron (2182 bp). The location of the gene is mouse chromosome 16
(B1, UniGene Cluster Mm.103787 Mus musculus). The human gene HIC2
maps to chromosome 22q11.2, and is a homolog of the HIC1 candidate
tumor suppressor gene located at 17p 13.3. (Deltour et al. 2001).
Upstream from the TATA box MatInspector predicted different
transcription binding sites. Between them Wilms Tumor Suppressor
and p53 are most interesting transcription sites for the Hic2 gene.
That’s why the Hic2 promoter activity was checked. A 1.2 kb
promoter fragment of Hic2 has been characterized in a gene reporter
assay system. The peak activity of the Hic2 promoter is associated
with the total fragment, the next higher activity is in the
fragment which included Wilms Tumor Suppressor and p53
transcription sites. The expression of the mouse Hic2 was
investigated by in situ hybridisations (ISHs) of whole mount
embryos and paraffin sections. Hic2 expression was detected in
restricted territories of the brain, sinus centralis, olfactory
bulb, canallis centralis medullae spinalis, embryonic ectoderm
(neuroepithelium of neural tube), and small intestine. Because of
its expression in the central nervous system, and mapping position
of its human homolog HIC2, Hic2 could be involved in some
syndromes. Patients with a 22q11 deletion have disrupted brain
development which may involve abnormal neural crest cell migration,
(Van Amelsvoort et al., 2001). It is now recognized that the
22q11.2 deletion syndrome encompasses the phenotypes previously
described as DiGeorge syndrome (DGS) and velocardiofacial syndrome
(Shprintzen syndrome),(Thomas and Graham 1997).
and γFBP (chicken), Hic2 cDNA coded five Krüppel-type C2H2 zinc
finger domain. Through the sequencing and comparation with
different protein sequences from the homolog proteins from
different species (HIC1, Hic1, HIC2, γFBP, and Hypothetical
protein), Hic2 protein shares more than 80% homology with HIC1
through the BTB/POZ and zinc finger domains, and both proteins have
identical GLDLSKK/R motifs. A new part of Hic2 gene coding, exon
two, and new exon one deduced full-length Hic2 protein contains 601
amino acids. Hic2 gene has two Exons (240 and 1842 bp), with one
Intron (2182 bp). The location of the gene is mouse chromosome 16
(B1, UniGene Cluster Mm.103787 Mus musculus). The human gene HIC2
maps to chromosome 22q11.2, and is a homolog of the HIC1 candidate
tumor suppressor gene located at 17p 13.3. (Deltour et al. 2001).
Upstream from the TATA box MatInspector predicted different
transcription binding sites. Between them Wilms Tumor Suppressor
and p53 are most interesting transcription sites for the Hic2 gene.
That’s why the Hic2 promoter activity was checked. A 1.2 kb
promoter fragment of Hic2 has been characterized in a gene reporter
assay system. The peak activity of the Hic2 promoter is associated
with the total fragment, the next higher activity is in the
fragment which included Wilms Tumor Suppressor and p53
transcription sites. The expression of the mouse Hic2 was
investigated by in situ hybridisations (ISHs) of whole mount
embryos and paraffin sections. Hic2 expression was detected in
restricted territories of the brain, sinus centralis, olfactory
bulb, canallis centralis medullae spinalis, embryonic ectoderm
(neuroepithelium of neural tube), and small intestine. Because of
its expression in the central nervous system, and mapping position
of its human homolog HIC2, Hic2 could be involved in some
syndromes. Patients with a 22q11 deletion have disrupted brain
development which may involve abnormal neural crest cell migration,
(Van Amelsvoort et al., 2001). It is now recognized that the
22q11.2 deletion syndrome encompasses the phenotypes previously
described as DiGeorge syndrome (DGS) and velocardiofacial syndrome
(Shprintzen syndrome),(Thomas and Graham 1997).
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