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Gene Review:

TTC3 - tetratricopeptide repeat domain 3

Homo sapiens

Synonyms: DCRR1, E3 ubiquitin-protein ligase TTC3, Protein DCRR1, RING finger protein 105, RNF105, ...

Rachidi, M. et al., Tsukahara, F. et al., Eki, T. et al., Ohira, M. et al., Shin, J.H. et al., et al.

Eki, Abe, Naitou, Sasanuma, Nohata, Kawashima, Ahmad, Hanaoka, Murakami, Ohira, Seki, Nagase, Suzuki, Nomura, Ohara, Hattori, Sakaki, Eki, Murakami, Saito, Ichikawa, Ohki, Rachidi, Lopes, Gassanova, Sinet, Vekemans, Attie, Delezoide, Delabar,

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Disease relevance of TTC3

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) [1].

High impact information on TTC3

Previously we also performed exon-trapping and direct cDNA library screening of a fetal brain cDNA library and identified a novel gene TPRD [2].
Regional and cellular specificity of the expression of TPRD, the tetratricopeptide Down syndrome gene, during human embryonic development [3].
Here we show that the TPRD expression is developmentally regulated during human embryogenesis [3].
We extended our analysis of TPRD expression during fetal development of the human nervous system (13, 22 and 24 weeks) [3].
The TPRD gene (tetratricopeptide (TPR) containing Down syndrome gene) is one of the candidate genes in the Down syndrome chromosomal region-1 [3].

Biological context of TTC3

TPRDII, which is probably an alternative splicing product from the TPRD gene transcript, encodes two large open reading frames (ORFs) of 200 amino acid residues and 1,792 amino acid residues, respectively [4].
The TPRD gene, the novel gene which was proved to be in the 1.6-Mb region and to have the interesting features described above, is a candidate for genes responsible for the DS phenotypes [5].
Cloning and characterization of novel gene, DCRR1, expressed from Down's syndrome critical region of human chromosome 21q22.2 [6].
The imbalance of the DCRR1 gene dosage may contibute to the pathogenesis of Down's syndrome [6].
The new gene, DCRR1, from the proximal part of the Down's syndrome critical region (DCR) was identified by the GRAIL analysis of the 97-kb nucleotide sequence of two P1 DNAs and the cDNA for DCRR1 gene was cloned [6].

Anatomical context of TTC3

Northern blot analysis revealed that TPRDI and its isoforms are present in 7-17 day mouse embryo and in all the human adult and fetal tissues examined [4].

Other interactions of TTC3

We identified and cloned a novel 9,078-bp cDNA, designated TPRDI, from the Down syndrome-critical region by exon trapping [4].

References

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]
Gene identification in 1.6-Mb region of the Down syndrome region on chromosome 21. Ohira, M., Seki, N., Nagase, T., Suzuki, E., Nomura, N., Ohara, O., Hattori, M., Sakaki, Y., Eki, T., Murakami, Y., Saito, T., Ichikawa, H., Ohki, M. Genome Res. (1997) [Pubmed]
Regional and cellular specificity of the expression of TPRD, the tetratricopeptide Down syndrome gene, during human embryonic development. Rachidi, M., Lopes, C., Gassanova, S., Sinet, P.M., Vekemans, M., Attie, T., Delezoide, A.L., Delabar, J.M. Mech. Dev. (2000) [Pubmed]
Identification and cloning of a novel cDNA belonging to tetratricopeptide repeat gene family from Down syndrome-critical region 21q22.2. Tsukahara, F., Hattori, M., Muraki, T., Sakaki, Y. J. Biochem. (1996) [Pubmed]
Identification of a novel human gene containing the tetratricopeptide repeat domain from the Down syndrome region of chromosome 21. Ohira, M., Ootsuyama, A., Suzuki, E., Ichikawa, H., Seki, N., Nagase, T., Nomura, N., Ohki, M. DNA Res. (1996) [Pubmed]
Cloning and characterization of novel gene, DCRR1, expressed from Down's syndrome critical region of human chromosome 21q22.2. Eki, T., Abe, M., Naitou, M., Sasanuma, S.I., Nohata, J., Kawashima, K., Ahmad, I., Hanaoka, F., Murakami, Y. DNA Seq. (1997) [Pubmed]

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