Islands of euchromatin-like sequence and expressed of polymorphic sequences within the short arm of human chromosome 21
Islands of euchromatin-like sequence and expressed of polymorphic sequences within the short arm of human chromosome 21
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DOI：
10.1101/gr.6675307
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发表时间：
2007-11-01
期刊：
影响因子：
7
通讯作者：
Antonarakis, Stylianos E.
中科院分区：
文献类型：
--
作者：
Lyle, Robert;Prandini, Paola;Antonarakis, Stylianos E.
人类基因组计划的目标不包括异染色质区域的测序。我们在这里描述了人类21号染色体短臂(HSA21p)的1.1Mb的初始序列，估计是21p的10%。该区域含有广泛的常着色质样序列，平均每100kb包含一个转录本。这些转录本显示出多个染色体间和染色体内的拷贝，以及广泛的拷贝数量和序列变异性。对人类基因组“异染色质”区域的测序可能会揭示许多额外的功能元件，并提供重要的进化信息。
The goals of the human genome project did not include sequencing of the heterochromatic regions. We describe here an initial sequence of 1.1 Mb of the short arm of human chromosome 21 (HSA21p), estimated to be 10% of 21p. This region contains extensive euchromatic-like sequence and includes on average one transcript every 100 kb. These transcripts show multiple inter- and intrachromosomal copies, and extensive copy number and sequence variability. The sequencing of the "heterochromatic" regions of the human genome is likely to reveal many additional functional elements and provide important evolutionary information.