Genome duplications and other features in 12 Mb of DNA sequence from humanchromosome 16p and 16q

Several publicly funded large-scale sequencing efforts have been initiated with the goal of completing the first reference human genome sequence by th e year 2005. Here we present the results of analysis of 11.8 Mb of genomic sequence from chromosome 16. The apparent gene density varies throughout th e region, but the number of genes predicted (84) suggests that this is a ge ne-poor region. This result may also suggest that the total number of human genes is likely to be at the lower end of published estimates. One of the most interesting aspects of this region of the genome is the presence of hi ghly homologous, recently duplicated tracts of sequence distributed through out the p-arm. Such duplications have implications for mapping and gene ana lysis as well as the predisposition to recurrent chromosomal structural rea rrangements associated with genetic disease. (C) 1999 Academic Press.