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Gene Review:

DSCR3 - Down syndrome critical region 3

Homo sapiens

Synonyms: DCRA, DSCRA, Down syndrome critical region protein 3, Down syndrome critical region protein A

Hu, Y. et al., Shin, J.H. et al., Nakamura, A. et al.

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Disease relevance of DSCR3

CONCLUSION: Because the DSCR3/GAPDH ratio of trisomy 21 syndrome fetuses is significantly higher than that of normal fetuses, the genomic DNA real-time PCR technique may be a reliable and specific method for the rapid prenatal diagnosis of Down syndrome [1].

High impact information on DSCR3

Real-time PCR technique effectively differentiates the normal fetuses from the trisomy 21 syndrome fetuses; therefore, compared to the results of the conventional cytogenetic karyotype analysis, the DSCR3/GAPDH ratios of trisomy 21 syndrome fetuses are significantly higher than those of normal fetuses [1].
It is 2,157 bp long and has an open reading frame of 297 amino acid residues, which shows 92% identity to human DCRA [2].
The gene, designated as DCRA (Down syndrome Critical Region gene A), consists of eight exons of 3,252 bp in total and encodes a large open reading frame of 297 amino acid residues [2].
Mice polytransgenic for chromosome 21 genes DSCR3, 5, 6, 9, and TTC3 within the Down Syndrome Critical Region-1 represent an animal model for Down Syndrome (DS) [3].

Biological context of DSCR3

METHODS: High throughput real-time PCR technique was used to measure the DSCR3 gene dosage of genomic DNAs from uncultured amniocytes of fetuses, lymphocytes of trisomy 21 syndrome patients, and normal people, compared to conventional cytogenetic karyotype analysis [1].

References

Quantitative real-time PCR technique for rapid prenatal diagnosis of Down syndrome. Hu, Y., Zheng, M., Xu, Z., Wang, X., Cui, H. Prenat. Diagn. (2004) [Pubmed]
Isolation of a novel human gene from the Down syndrome critical region of chromosome 21q22.2. Nakamura, A., Hattori, M., Sakaki, Y. J. Biochem. (1997) [Pubmed]
Protein dysregulation in mouse hippocampus polytransgenic for chromosome 21 structures in the Down Syndrome Critical Region. Shin, J.H., Gulesserian, T., Verger, E., Delabar, J.M., Lubec, G. J. Proteome Res. (2006) [Pubmed]

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