DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage

Chromosome 17 is unusual among the human chromosomes in many respects. It is the largest human autosome with orthology to only a single mouse chromosome, mapping entirely to the distal half of mouse chromosome 11. Chromosome 17 is rich in protein-coding genes, having the second highest gene density in the genome. It is also enriched in segmental duplications, ranking third in density among the autosomes. Here we report a finished sequence for human chromosome 17, as well as a structural comparison with the finished sequence for mouse chromosome 11, the first finished mouse chromosome. Comparison of the orthologous regions reveals striking differences. In contrast to the typical pattern seen in mammalian evolution, the human sequence has undergone extensive intrachromosomal rearrangement, whereas the mouse sequence has been remarkably stable. Moreover, although the human sequence has a high density of segmental duplication, the mouse sequence has a very low density. Notably, these segmental duplications correspond closely to the sites of structural rearrangement, demonstrating a link between duplication and rearrangement. Examination of the main classes of duplicated segments provides insight into the dynamics underlying expansion of chromosome-specific, low-copy repeats in the human genome.     

Human chromosome 11 DNA sequence and analysis including novel gene identification

Chromosome 11, although average in size, is one of the most gene- and disease-rich chromosomes in the human genome. Initial gene annotation indicates an average gene density of 11.6 genes per megabase, including 1,524 protein-coding genes, some of which were identified using novel methods, and 765 pseudogenes. One-quarter of the protein-coding genes shows overlap with other genes. Of the 856 olfactory receptor genes in the human genome, more than 40% are located in 28 single- and multi-gene clusters along this chromosome. Out of the 171 disorders currently attributed to the chromosome, 86 remain for which the underlying molecular basis is not yet known, including several mendelian traits, cancer and susceptibility loci. The high-quality data presented here--nearly 134.5 million base pairs representing 99.8% coverage of the euchromatic sequence--provide scientists with a solid foundation for understanding the genetic basis of these disorders and other biological phenomena.     

Model–proxy comparison for overshoot phenomenon of Atlantic thermohaline circulation at Bφlling–Allerφd

The overshoot phenomenon of the Atlantic thermohaline circulation （THC） is a transient climate response to meltwater forcing and could induce intense climate change by increasing the magnitudes of Atlantic THC changes at the end of meltwater discharges. This phenomenon was formally presented with the successfully simulated Bolling-Allerod （BA） event in the first transient simulation of the last deglaciation with fully coupled model NCAR-CCSM3 （TraCE-21K）. Currently, not all proxy records of Atlantic THC support the occurrence of the THC overshoot at BA. Commonly used THC proxy from Bermuda Rise （GGC5） does not exhibit THC overshoot at BA but other proxies such as TTR-451 at Eirik Drift do. How to interpret this regional discrepancy of proxy records is a key question for the validation of the Atlantic THC overshoot at BA. Here, we show that the vigor of deep circulation varies regionally during the Atlantic THC overshoot at BA in TraCE-21K simulation, and this regional discrepancy in the simulation is consistent with that in the marine sediment records in North Atlantic. The consistent model-proxy evidence supports the occurrence of Atlantic THC overshoot at BA.