Genetic and physical maps of jerker (Espn(je)) on mouse chromosome 4.
The jerker mutation causes degeneration of cochlea and vestibular sensory hair cells in mice. A frame-shift mutation in the actin bundling gene Espin (Espn) leads to hair bundle defects by disrupting the actin filament assembly in stereocilia. Previously, jerker was mapped to distal mouse chromosome 4. Here, analyzing 2536 informative meioses derived from two intersubspecific intercrosses, we localize jerker to a 0.51+/-0.14cM interval on chromosome 4. The following order and distances of genes and markers were determined: D4Mit180-0.44+/-0.13cM-Hes2, Espn(je)-0.08+/-0.06cM-D4Mit356-0.28+/-0.1cM-D4Mit208. A 300kb physical bacterial artificial chromosome (BAC) contig was generated containing the Espn(je) locus. The human homologous region maps to 1p36.31. We present a detailed high-resolution genetic and physical map of markers located at distal chromosome 4 and demonstrate concordance of Espn with jerker.
Jackson
Torrance
T
Section on Neurogenetics, Laboratory of Molecular Biology, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, 20850, Rockville, MD, USA.
Thomas
James
J
Green
Eric D
ED
Noben-Trauth
Konrad
K
D000818:Animals; D002874:Chromosome Mapping; D002875:Chromosomes; D022202:Chromosomes, Artificial, Bacterial; D002878:Chromosomes, Human, Pair 1; D005819:Genetic Markers; D006801:Humans; D051379:Mice; D008818:Mice, Neurologic Mutants / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D020161:Physical Chromosome Mapping
D005819:Genetic Markers; D008840:Microfilament Proteins; C104108:espin protein, mouse