Transcript catalogs of human chromosome 21 and orthologous chimpanzee and mouse regions.
Transcript catalogs of human chromosome 21 and orthologous chimpanzee and mouse regions.
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人类 21 号染色体以及直系同源黑猩猩和小鼠区域的转录目录。
DOI：
10.1007/s00335-011-9321-y
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发表时间：
2011
期刊：
影响因子：
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通讯作者：
Gardiner,KatheleenJ
中科院分区：
文献类型：
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作者：
Sturgeon,Xiaolu;Gardiner,KatheleenJ
人类 21 号染色体长臂 (Hsa21q) 基因内容的全面表征对于唐氏综合症、其相关表型特征和小鼠模型的研究仍然很有意义。在这里，我们比较了 Hsa21q、黑猩猩 21 号染色体 (Ptr21q) 和小鼠 16、17 和 10 号染色体的直系同源区域的转录本目录，以了解开放阅读框 (ORF) 特征和保守性。 Hsa21q 和小鼠目录分别包含 552 个和 444 个基因模型，其中只有 162 个是高度保守的。 Hsa21q 转录本用于鉴定 Ptr21q 中的直系同源外显子并组装 533 个假定转录本。所有三种生物体的转录本目录均可搜索，包括 ORF 长度、重复内容、实验支持、基因结构和保守性等核苷酸和氨基酸序列特征。对于人类和小鼠的比较，提供了三个额外的总结：（1）新型 ORF 转录本与潜在功能性 RNA 的染色体分布，（2）Hsa21q 和唐氏综合症小鼠模型中物种特异性转录本的分布，以及（3）定义潜在调节机制的正义反义和推定正义反义结构的组织。所有复合转录本的目录、摘要以及核苷酸和氨基酸序列均可在 http://gfuncpathdb.ucdenver.edu/iddrc/chr21/home.php 上获取和搜索。这些数据集提供了全面的信息，可用于评估唐氏综合症的候选基因和小鼠模型，以及识别潜在的功能性 RNA 基因和涉及 Hsa21q 基因的新型调控机制。这些目录和搜索工具补充和扩展了其他基因注释项目中可用的信息。
A comprehensive representation of the gene content of the long arm of human chromosome 21 (Hsa21q) remains of interest for the study of Down syndrome, its associated phenotypic features, and mouse models. Here we compare transcript catalogs for Hsa21q, chimpanzee chromosome 21 (Ptr21q), and orthologous regions of mouse chromosomes 16, 17, and 10 for open reading frame (ORF) characteristics and conservation. The Hsa21q and mouse catalogs contain 552 and 444 gene models, respectively, of which only 162 are highly conserved. Hsa21q transcripts were used to identify orthologous exons in Ptr21q and assemble 533 putative transcripts. Transcript catalogs for all three organisms are searchable for nucleotide and amino acid sequence features of ORF length, repeat content, experimental support, gene structure, and conservation. For human and mouse comparisons, three additional summaries are provided: (1) the chromosomal distribution of novel ORF transcripts versus potential functional RNAs, (2) the distribution of species-specific transcripts within Hsa21q and mouse models of Down syndrome, and (3) the organization of sense–antisense and putative sense–antisense structures defining potential regulatory mechanisms. Catalogs, summaries, and nucleotide and amino acid sequences of all composite transcripts are available and searchable at http://gfuncpathdb.ucdenver.edu/iddrc/chr21/home.php . These data sets provide comprehensive information useful for evaluation of candidate genes and mouse models of Down syndrome and for identification of potential functional RNA genes and novel regulatory mechanisms involving Hsa21q genes. These catalogs and search tools complement and extend information available from other gene annotation projects.