Comparative map for mice and humans

Nadeau, Joseph H.; Davisson, Muriel T.; Doolittle, Donald P.; Grant, Patricia; Hillyard, A.L.; Kosowsky, Michael; Roderick, Thomas H.

doi:10.1007/bf00778825

Cited by 111 publications

(20 citation statements)

References 1,252 publications

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“…Comparative mapping reveals enormous conservation between mouse and human genomes (25). While the mouse eye is much smaller than human, the morphology and histology are very similar (19,26).…”

Section: Resultsmentioning

confidence: 99%

Mouse model for Usher syndrome: linkage mapping suggests homology to Usher type I reported at human chromosome 11p15.

Heckenlively

Chang

Erway

et al. 1995

Proc. Natl. Acad. Sci. U.S.A.

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Usher syndrome is a group of diseases with autosomal recessive inheritance, congenital hearing loss, and the development of retinitis pigmentosa, a progressive retinal degeneration characterized by night blindness and visual field loss over several decades. The causes of Usher syndrome are unknown and no animal models have been available for study. Four human gene sites have been reported, suggesting at least four separate forms of Usher syndrome. We report a mouse model of type I Usher syndrome, rd5, whose linkage on mouse chromosome 7 to Hbb and tub has homology to human Usher I reported on human chromosome lipl5. The electroretinogram in homozygous rd5/rd5 mouse is never normal with reduced amplitudes that extinguish by 6 months. Auditoryevoked response testing demonstrates increased hearing thresholds more than control at 3 weeks of about 30 decibels (dB) that worsen to about 45 dB by 6 months.Usher syndrome is the most common retinitis pigmentosa syndrome. The incidence in the general population is estimated to be 4.4 per 100,000, and within the deaf population, the prevalence rate has been reported to range from 3% to 6% (1-3). There are two clinical forms of Usher syndrome: types I and II. Type I patients have congenital profound hearing loss with auditory thresholds typically >100 decibels (dB) and marked hypoactivity of vestibular function (4, 5). There are three human gene linkage sites reported for Usher type I, chromosomes liplS (6), 11q14 (7), and 14q32 (8) stimuli repetitions were averaged to obtain threshold values, by decreasing the intensity by 10-dB intervals to subthreshold and then by increasing or decreasing the intensity by 5-dB intervals until repeated waveforms for at least two peaks were identified. Normal controls were 6-month-old C57BL/6J mice.Electroretinography and Indirect Ophthalmoscopy. Electroretinograms were performed as reported (17,19). A range of intensity flash levels over four orders of magnitude with a Grass photostimulator and neutral density filters (Kodak) was used to evoke the electroretinogram. For the natural history study, a 10-,tsec single flash intensity (73 foot-lamberts-sec; 1 footlambert = 3.426 cd/mi2) was used to follow the retinal degeneration. Indirect ophthalmoscopy was performed by using a 40-or 60-diopter aspheric lens and retinal biomicroscopy was performed by using a 90-diopter lens.Histology. Light microscopic examination was performed on 15 eyes, ages 3, 4, 6, 7, 8, 10, 11, 18, and 24 weeks, which were enucleated immediately after anesthetic overdose with Avertin and immersed in ice-cold fixative [1% paraformaldehyde/2% (vol/vol) glutaldehyde/0.1 M cacodylate buffer, pH 7.4] for 24 h, embedded in hydroxyethylmethacrylate, and sectioned along the temporal-nasal axis.For ultrastructural studies, eyes from rd5/rd5 mutants at 3, 5, 7, 9, and 11 postnatal weeks old were fixed with 0.5x Karnovsky's fixative (pH 7.4) for 24 h, rinsed in 100 mM sodium cacodylate buffer (pH 7.4), and fixed secondarily in 2.0% (wt/vol) osmium tetroxide for 1-2 h. T...

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Section: Resultsmentioning

confidence: 99%

Mouse model for Usher syndrome: linkage mapping suggests homology to Usher type I reported at human chromosome 11p15.

Heckenlively

Chang

Erway

et al. 1995

Proc. Natl. Acad. Sci. U.S.A.

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“…4). In addition, the proximal breakpoint of the Rw inversion is located in the segment of synteny conservation between mouse chromosome 5 and human chromosome 7 (33). Therefore, if the Rw lethality factor proves to be located at the proximal breakpoint of the Rw inversion, we predict the existence of a developmentally important gene causing late embryonic lethality in the homologous region on human chromosome 7 (q21 or q36).…”

Section: Discussionmentioning

confidence: 99%

Structural analysis of chromosomal rearrangements associated with the developmental mutations Ph, W19H, and Rw on mouse chromosome 5.

Nagle

Martin‐DeLeon

Hough

et al. 1994

Proc. Natl. Acad. Sci. U.S.A.

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We are studying the chromosomal structure of three developmental mutations, dint spotting (W), patch (Ph), and rump white (Rw) on mouse chromosome 5. These mutations are clustered in a region containing three genes encoding tyrosine kinase receptors (Kit, PdJfyu, and FRkl). Using probes for these genes and for a closely linked locus, D5Mn125, we esta hed a high-resolution physical map covering r2.8 Mb. The entire chromosomal segment mapped in this study is deleted in the W19H mutation. The map i tes the position of the Ph deletion, which encompasses not more than 400 kb around and including the Pdgfra gene. The map also places the distal breakpoint of the Rw inversion to a limited chromosomal segment between Kit and Pdgfi. In light of the structure of the Ph-W-Rw region, we interpret the previously published complementtion analyses as indicating that the pigmentation defect inRw/+ heterozygotes could be due to the disruption ofKit and/or Pdefia regulatory sequences, whereas the gene(s) responsible for the recessive lethality of Rw/Rw embryos is not closely linked to the Ph and W loci and maps promaily to the W19H deletion. 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.

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“…In humans, the kallikrein gene family locus is on chromosome 19q13 (7)(8)(9), a region that is syntenic to the mouse tissue kallikrein gene family locus on chromosome 7 (10). However, in marked contrast to the large rodent kallikrein gene family, the human kallikrein gene family was, until recently, composed of three genes.…”

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confidence: 99%