AI Article Synopsis
- The Human Genome Project initially did not focus on sequencing heterochromatic regions, leading to gaps in our genetic understanding.
- Researchers have sequenced 1.1 Mb of the short arm of human chromosome 21, which represents about 10% of that region and contains gene-like sequences.
- The findings suggest that the heterochromatic regions hold valuable functional elements and evolutionary insights that have yet to be explored.
Article Abstract
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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2045151 | PMC |
| http://dx.doi.org/10.1101/gr.6675307 | DOI Listing |
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