Detailed Comparative Map of Human Chromosome 19q and Related Regions of the Mouse Genome

Abstract

chromosomes resemble each other closely within synOne of the larger contiguous blocks of mouse-hu-tenic 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 Giebel and Spritz, 1991). 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. mouse versus human 19q sequences involve segmentsOne of the larger contiguous blocks of mouse-human that are located directly adjacent to each other in genomic homology includes the proximal portion of portant new tool to aid in the mapping of genes and Cavanna et al., 1990; Brown et al., 1993; reviewed by associated phenotypes in both species. ᭧ 1996 Academic Press, Inc. Brilliant et al., 1994), but have also indicated that a significant amount of rearrangement has occurred between the mouse and the human segments. The recent

The Human Homolog of a Mouse-Imprinted Gene, Peg3, Maps to a Zinc Finger Gene-Rich Region of Human Chromosome 19q13.4

“…Kim, M. Shannon, and L. Stubbs, unpubl.). Some of the known human genes localized to this region in previous studies are included in Figure 1 Stubbs et al 1996). Peg3-related sequences were found to be positioned between PRKCG and ZNF134, ∼2 and 1 Mb from these two markers, respectively.…”

“…Investigation of these basic characteristics of the human PEG3 gene represent the essential first steps toward understanding the possible role of the gene in imprinted human traits or health-related disorders. The proximal third of Mmu7 is closely related in gene content, order, and spacing to the long arm of human chromosome 19 (Saunders and Seldin 1990;Stubbs et al 1996), making it likely that the human counterpart of Peg3 would be found in that human region. To gain more information about the human PEG3 gene and to provide tools for the discovery of other potentially imprinted genes, we have mapped human sequences related to the mouse Peg3 gene within the established physical map of human chromosome 19 .…”

Zooming in on the Human–Mouse Comparative Map: Genome Conservation Re-examined on a High-Resolution Scale

“…At least two other breakpoints of H19q13.4/Mmu7 conserved synteny are located in regions packed with ZNF gene families, which are present in particular abundance on H19 (Fig. 4; Ashworth et al 1995;Stubbs et al 1996;Kim et al 1997;Shannon et al 1997). Of interest in this regard are observations that ZNF gene clusters are also frequently involved in translocations associated with human cancer (Rabbitts 1994 and references therein).…”

“…A number of zinc fingers containing genes have been identified on chromosome 19q and in related regions of Mmu7; some have been characterized and are indicated by specific locus names (e.g., ZNF134); clusters of other genes that have not been completely sequenced or assigned locus names are indicated simply as ZNF on this map. Data are compiled from published studies Stubbs et al 1996;Kim et al 1997;Shannon et al 1997); additional information can be obtained from the original references.…”

“…Although significant conservation of synteny (a frequently misused word that simply describes chromosomal linkage) is observed throughout the mammalian orders, no two genomes have been compared and contrasted as extensively as those of human and the laboratory mouse. Currently, ∼200 linkage groups are known to be conserved between the two species (DeBry and Seldin 1996;Eppig and Nadeau 1996), and although the pace of discovery has slowed considerably in recent years, new conserved linkage groups are still being reported (Dinulos et al 1996;Stubbs et al 1996;Watkins-Chow et al 1996).…”