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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Toyoda, Atsushi Noguchi, Hideki Taylor, Todd D. Ito, Takehiko Pletcher, Mathew T. Sakaki, Yoshiyuki Reeves, Roger H. Hattori, Masahira |
| Description | Country affiliation: Japan Author Affiliation: Toyoda A ( Human Genome Research Group, Genomic Sciences Center, RIKEN Yokohama Institute, 1-7-22, Suehiro-cho, Tsurumi-ku, Yokohama, Kanagawa, Japan.) |
| Abstract | Comprehensive knowledge of the gene content of human chromosome 21 (HSA21) is essential for understanding the etiology of Down syndrome (DS). Here we report the largest comparison of finished mouse and human sequence to date for a 1.35-Mb region of mouse chromosome 16 (MMU16) that corresponds to human chromosome 21q22.2. This includes a portion of the commonly described 'DS critical region,' thought to contain a gene or genes whose dosage imbalance contributes to a number of phenotypes associated with DS. We used comparative sequence analysis to construct a DNA feature map of this region that includes all known genes, plus 144 conserved sequences > or =100 bp long that show > or =80% identity between mouse and human but do not match known exons. Twenty of these have matches to expressed sequence tag and cDNA databases, indicating that they may be transcribed sequences from chromosome 21. Eight putative CpG islands are found at conserved positions. Models for two human genes, DSCR4 and DSCR8, are not supported by conserved sequence, and close examination indicates that low-level transcripts from these loci are unlikely to encode proteins. Gene prediction programs give different results when used to analyze the well-conserved regions between mouse and human sequences. Our findings have implications for evolution and for modeling the genetic basis of DS in mice. |
| File Format | HTM / HTML |
| ISSN | 10889051 |
| e-ISSN | 15495469 |
| Journal | Genome Research |
| Issue Number | 9 |
| Volume Number | 12 |
| Language | English |
| Publisher | Cold Spring Harbor Laboratory Press |
| Publisher Date | 2002-09-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Discipline Genetics Discipline Genomics Chromosomes, Human, Pair 21 Genetics Down Syndrome Genome, Human Sequence Analysis, Dna Animals Base Composition Chromosome Mapping Chromosomes, Artificial, P1 Bacteriophage Conserved Sequence Mice Mice, Inbred Strains Molecular Sequence Data Comparative Study Research Support, Non-u.s. Gov't Research Support, U.s. Gov't, P.h.s. |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Genetics (clinical) |
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