Disease relevance of Rw

• This region corresponds comparatively to a region on mouse chromosome 5 which houses several coat color mutations, among which homology is possible with Hardy-Zuckerman 4 feline sarcoma viral oncogene homologue (Kit), patch (Ph), and rump white (Rw) [1].

High impact information on Rw

• 5. The Rw mutation is associated with a chromosomal inversion spanning 30 cM of the proximal portion of mouse chromosome 5 [2].
• The mouse rump white (Rw) mutation causes a pigmentation defect in heterozygotes and embryonic lethality in homozygotes [2].
• Structural analysis of chromosomal rearrangements associated with the developmental mutations Ph, W19H, and Rw on mouse chromosome 5 [3].
• We are studying the chromosomal structure of three developmental mutations, dominant spotting (W), patch (Ph), and rump white (Rw) on mouse chromosome 5 [3].
• This enabled us to show that Rw homozygote embryos die around 9.5 days of gestation [4].

Biological context of Rw

• Taken together, both the genetic and physical mapping data establish that the Rw mutation is associated with an inversion involving loci in the proximal region of Chromosome 5 [5].
• The structural analysis of chromosomal rearrangements associated with W19H, Ph, and Rw combined with the high-resolution physical mapping points the way toward the definition of these mutations in molecular terms and isolation of homologous genes on human chromosome 4 [3].
• Using one such marker, we were able to genotype the offspring of Rw/+ intercrosses [4].
• Three mutations in the mouse, white spotting (W), rump white (Rw), and patch (Ph), are described as a "gene triplet" on the basis of their close genetic linkage and similar mutant phenotypes [4].
• In the mouse Rw colour pattern is the result of an inversion involving the proto-oncogene c-kit (KIT) [6].

Other interactions of Rw

• Gene order and recombination frequencies are estimated as Pep-7, 3.5 +/- 2.0 Rw 8.8 +/- 2.2 go 20.0 +/- 4.6 bf [7].
• The YAC clones and corresponding YAC end probes presented here provide an important resource for the molecular analysis of a cluster of developmental mutations, namely dominant white spotting (W), patch (Ph), recessive spotting (rs), and rump-white (Rw), associated with this chromosomal region [8].

Analytical, diagnostic and therapeutic context of Rw

• To position the mutations within the Rw region and to guide allelism tests, we performed complementation analyses with a set of new and existing chromosomal deletions, as well as standard recombinational mapping on a subset of the mutations [9].

References