Abstract
For understanding the pathogenesis of Down syndrome (DS), it is important to identify and characterize the genes on Chromosome (Chr) 21, especially those in the Down syndrome critical region (DSCR) on Chr 21q22.2. Recently we have determined 33.5 Mb (more than 99%) of DNA sequence of Chr 21 and, from these sequence data, we identified a novel gene, DSCR5 (transcript = 0.8 kb), from DSCR by combination of computational gene prediction and cDNA screening. For functional analysis of DSCR5, we identified a mouse homolog of the DSCR5 cDNA, and termed it mDscr5 (transcript length = 0.8 kb). The gene was mapped to mouse Chr 16 C3-C4, the syntenic region of human Chr 21, and encodes an amino acid of 132 residues with 90% identity to DSCR5. In situ hybridization showed that mDscr5 is predominantly expressed in the developing tongue. To our best knowledge, no other gene in DSCR is reported to be expressed in tongue, so that DSCR5 may be the first candidate to elucidate the pathophysiology of tongue malformation observed in DS.
| Original language | English |
|---|---|
| Pages (from-to) | 347-351 |
| Number of pages | 5 |
| Journal | Mammalian Genome |
| Volume | 12 |
| Issue number | 5 |
| DOIs | |
| Publication status | Published - 2001 |
| Externally published | Yes |
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ASJC Scopus subject areas
- Genetics
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Molecular cloning and characterization of a gene expressed in mouse developing tongue, mDscr5 gene, a homolog of human DSCR5 (Down syndrome Critical Region gene 5). / Choi, Dong Kug; Suzuki, Yutaka; Yoshimura, Shinichiro; Togashi, Takushi; Hida, Munetomo; Taylor, Todd D.; Wang, Yuepeng; Sugano, Sumio; Hattori, Masahira; Sakaki, Yoshiyuki.
In: Mammalian Genome, Vol. 12, No. 5, 2001, p. 347-351.Research output: Contribution to journal › Article
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TY - JOUR
T1 - Molecular cloning and characterization of a gene expressed in mouse developing tongue, mDscr5 gene, a homolog of human DSCR5 (Down syndrome Critical Region gene 5)
AU - Choi, Dong Kug
AU - Suzuki, Yutaka
AU - Yoshimura, Shinichiro
AU - Togashi, Takushi
AU - Hida, Munetomo
AU - Taylor, Todd D.
AU - Wang, Yuepeng
AU - Sugano, Sumio
AU - Hattori, Masahira
AU - Sakaki, Yoshiyuki
PY - 2001
Y1 - 2001
N2 - For understanding the pathogenesis of Down syndrome (DS), it is important to identify and characterize the genes on Chromosome (Chr) 21, especially those in the Down syndrome critical region (DSCR) on Chr 21q22.2. Recently we have determined 33.5 Mb (more than 99%) of DNA sequence of Chr 21 and, from these sequence data, we identified a novel gene, DSCR5 (transcript = 0.8 kb), from DSCR by combination of computational gene prediction and cDNA screening. For functional analysis of DSCR5, we identified a mouse homolog of the DSCR5 cDNA, and termed it mDscr5 (transcript length = 0.8 kb). The gene was mapped to mouse Chr 16 C3-C4, the syntenic region of human Chr 21, and encodes an amino acid of 132 residues with 90% identity to DSCR5. In situ hybridization showed that mDscr5 is predominantly expressed in the developing tongue. To our best knowledge, no other gene in DSCR is reported to be expressed in tongue, so that DSCR5 may be the first candidate to elucidate the pathophysiology of tongue malformation observed in DS.
AB - For understanding the pathogenesis of Down syndrome (DS), it is important to identify and characterize the genes on Chromosome (Chr) 21, especially those in the Down syndrome critical region (DSCR) on Chr 21q22.2. Recently we have determined 33.5 Mb (more than 99%) of DNA sequence of Chr 21 and, from these sequence data, we identified a novel gene, DSCR5 (transcript = 0.8 kb), from DSCR by combination of computational gene prediction and cDNA screening. For functional analysis of DSCR5, we identified a mouse homolog of the DSCR5 cDNA, and termed it mDscr5 (transcript length = 0.8 kb). The gene was mapped to mouse Chr 16 C3-C4, the syntenic region of human Chr 21, and encodes an amino acid of 132 residues with 90% identity to DSCR5. In situ hybridization showed that mDscr5 is predominantly expressed in the developing tongue. To our best knowledge, no other gene in DSCR is reported to be expressed in tongue, so that DSCR5 may be the first candidate to elucidate the pathophysiology of tongue malformation observed in DS.
UR - http://www.scopus.com/inward/record.url?scp=17744381758&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=17744381758&partnerID=8YFLogxK
U2 - 10.1007/s003350010283
DO - 10.1007/s003350010283
M3 - Article
C2 - 11331941
AN - SCOPUS:17744381758
VL - 12
SP - 347
EP - 351
JO - Mammalian Genome
JF - Mammalian Genome
SN - 0938-8990
IS - 5
ER -