The DNA sequence and biology of human chromosome 19

Science, 2001

BMC Evolutionary Biology

Background Human chromosome 19 has many unique characteristics including gene density more than double the genome-wide average and 20 large tandemly clustered gene families. It also has the highest GC content of any chromosome, especially outside gene clusters. The high GC content and concomitant high content of hypermutable CpG sites raises the possibility chromosome 19 exhibits higher levels of nucleotide diversity both within and between species, and may possess greater variation in DNA methylation that regulates gene expression. Results We examined GC and CpG content of chromosome 19 orthologs across representatives of the primate order. In all 12 primate species with suitable genome assemblies, chromosome 19 orthologs have the highest GC content of any chromosome. CpG dinucleotides and CpG islands are also more prevalent in chromosome 19 orthologs than other chromosomes. GC and CpG content are generally higher outside the gene clusters. Intra-species variation based on SNPs in ...

2012

Genomics, 1996

chromosomes resemble each other closely within syn-One of the larger contiguous blocks of mouse-hutenic blocks that vary widely in size, containing just man genomic homology includes the proximal portion a few to several hundred related genes (reviewed by of mouse chromosome 7 and the long arm of human Copeland et al., 1993). Within the best-mapped of these chromosome 19. Previous studies have demonstrated syntenically homologous regions, the presence and lothe close relationship between the two regions, but cation of specific genes can be accurately predicted in have also indicated significant rearrangements in the one species, based upon the mapping results obtained relative orders of homologous mouse and human in the other. In many cases, information regarding gene genes. Here we present the genetic locations of the function derived from the analysis of human hereditary homologs of 42 human chromosome 19q markers in the traits or mapped murine mutations may also be extrapmouse, with an emphasis on genes also included in olated from one species to another (e.g., Ton et al., 1992; the human chromosome 19 physical map. Our results . However, local rearrangedemonstrate that despite an overall inversion of sements, including apparent deletions, inversions, inserquences relative to the centromere, apparent ''transtions, and transposition events, have occurred within positions'' of three gene-rich segments, and a local inthese homologous blocks during the course of evolution, version of markers mapping near the 19q telomere, gene content, order, and spacing are remarkably well so that relationships between syntenically homologous conserved throughout the lengths of these related mouse and human regions are not always as straightmouse and human regions. Although most human 19q forward as they may seem on the grosser level. Consemarkers have remained genetically linked in mouse, quently, the power of prediction afforded in any homolone small human segment forms a separate region of ogy region increases tremendously with the level of reshomology between human chromosome 19q and mouse olution and degree of internal consistency associated chromosome 17. Three of the four rearrangements of with a particular set of comparative mapping data.

Genomics, 2000

Several projects have produced maps of the physical position of genes within the human genome, either on a genome-wide scale or of a more detailed subsection of a chromosome. However, these maps largely rely on the mapping of expressed sequences (cDNAs and ESTs) back onto physical maps by their localization onto specific fragments of DNA within the radiation hybrid panels. In this report we present a gene map of a section of chromosome 19 that has been derived by combining the use of a method of gene identification (exon trapping) that does not rely on expression patterns, with data available in the genome databases to produce a fine-detailed transcript map. This map also provides several potential candidates for disorders that map to this region of the genome. Details of the maps and more detailed descriptions of cosmid contigs, exon sequences, and expression patterns for the 96 exons that form the basis of this transcript map are available on a series of Web pages that are referenced in this report. These Web pages can be accessed from http://www.nottingham.ac.uk/ϳpdzmgh/tm/livemap19q. html.