Abstract：
PURPOSE:To map the canine rcd2 retinal degeneration locus. Rod-cone dysplasia type 2 (rcd2), an early-onset autosomal recessive form of progressive retinal atrophy (PRA), is phenotypically similar to early-onset forms of retinitis pigmentosa collectively termed Leber congenital amaurosis and segregates naturally in the collie breed of dog. Multiple genes have previously been evaluated as candidates for rcd2, but all have been excluded. METHODS:A set of informative experimental pedigrees segregating the rcd2 phenotype was produced. A genome-wide scan of these pedigrees using a set of 241 markers was undertaken. To refine the localized homology between canine and human maps, an RH map of the identified rcd2 region was built using a 3000 cR panel. A positional candidate gene strategy was then undertaken to begin to evaluate potentially causative genes. RESULTS:A locus responsible for the rcd2 phenotype was mapped to CFA7 in a region corresponding to human chromosome 1, region q32.1-q32.2. Maximum linkage was observed between rcd2 and marker FH3972 (theta = 0.02; lod = 25.53), and the critical region was flanked by markers FH2226 and FH3972. As CRB1 is the closest gene on human chromosome 1q known to cause retinal degeneration, canine gene-specific markers for CRB1 were developed, and this gene was excluded as a positional candidate for rcd2. CONCLUSIONS:The rcd2 locus represents a novel retinal degeneration gene. It is anticipated that when identified, this gene will offer new insights into retinal developmental and degenerative processes, and new opportunities for exploring experimental therapies.
journal_name
Invest Ophthalmol Vis Scijournal_title
Investigative ophthalmology & visual scienceauthors
Kukekova AV,Nelson J,Kuchtey RW,Lowe JK,Johnson JL,Ostrander EA,Aguirre GD,Acland GMdoi
10.1167/iovs.05-0861keywords:
subject
Has Abstractpub_date
2006-03-01 00:00:00pages
1210-5issue
3eissn
0146-0404issn
1552-5783pii
47/3/1210journal_volume
47pub_type
杂志文章abstract：PURPOSE:To determine the concentration of group II phospholipase (PL) A(2), an antimicrobial molecule, in tears of normal subjects in different age and sex groups. METHODS:PLA(2) content of tears was measured in 122 healthy volunteers with ages ranging from 20 to 89 years (mean, 49.5 years) by a time-resolved fluoroim...
journal_title：Investigative ophthalmology & visual science
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doi：
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abstract：:Herpes simplex virus type 1 (HSV-1) inoculated directly into the anterior chamber of the mouse eye induced an acute inflammatory process in both the injected eye and its uninjected (contralateral) counterpart. In the former, a rapid intense inflammatory reaction developed in the anterior segment (cornea, anterior cham...
journal_title：Investigative ophthalmology & visual science
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abstract：:Lymphocyte cultures were employed to assess the degree of spontaneous and induced chromosomal fragility in retinoblastoma. Sister chromatid exchange (SCEs) were scored in metaphases. Three unilateral, three bilateral, eleven family members and controls were studied. Retinoblastoma (RB) lymphocytes did not exhibit incr...
journal_title：Investigative ophthalmology & visual science
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abstract：PURPOSE:To determine the mechanism of reattachment of harvested human retinal pigment epithelium (RPE) to RPE-derived extracellular matrix and Bruch's membrane. METHODS:Confluent first-to third-passage human RPE were harvested from tissue culture and plated onto RPE-derived extracellular matrix or human Bruch's membra...
journal_title：Investigative ophthalmology & visual science
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doi：
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journal_title：Investigative ophthalmology & visual science
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journal_title：Investigative ophthalmology & visual science
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journal_title：Investigative ophthalmology & visual science
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doi：
更新日期：1986-11-01 00:00:00
abstract：:Topical administration of 1% vanadate in a formulation designed to enhance penetration lowered intraocular pressure in monkeys' eyes. The decrease in intraocular pressure was associated with significant decreases in aqueous humor flow. Tonographic outflow facility was unaltered by topical vanadate. ...
journal_title：Investigative ophthalmology & visual science
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doi：
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journal_title：Investigative ophthalmology & visual science
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journal_title：Investigative ophthalmology & visual science
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doi：
更新日期：1977-03-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
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doi：
更新日期：1984-08-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
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doi：
更新日期：1986-02-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
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journal_title：Investigative ophthalmology & visual science
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doi：
更新日期：2000-02-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
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journal_title：Investigative ophthalmology & visual science
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doi：
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journal_title：Investigative ophthalmology & visual science
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