Fine Localization of Nefl and Nef3 and its Exclusion as Candidate Gene for Lens Rupture 2(lr2)

Rhee, Sang Dal; Kim, Eunmin; Yoon, Sungjoo Kim; Yang, Sung-Don; Okumoto, Masaaki; Han, Sang-Seop; Song, Chuyi

doi:10.1538/expanim.53.295

Cited by 2 publications

(1 citation statement)

References 28 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Therefore, identification of the lr2 gene should clarify cataractogenesis in CXSD mice and identify a new class of genes involved in eye development, defects of which cause cataract. In addition to the previously excluded genes, neurofilament, light polypeptide (Nefl) and neurofilament 3, medium (Nef3) (Rhee et al, 2004), we removed two more genes, Adam28 and Adamdec1 , from the candidate gene list as the lr2 gene in this study. Isolation of the lr2 gene requires further mutational analyses of the genes in the critical region.…”

Section: Adam7mentioning

confidence: 99%

Genomic organization of the region spanning D14Mit262 and D14Mit86 on mouse chromosome 14 and exclusion of Adam28 and Adamdec1 as the cataract-causing gene, lr2

Kim

Rhee

Bae

et al. 2007

Cytogenet Genome Res

View full text Add to dashboard Cite

Mice with recessive cataract, CXSD, show the first clinical symptoms of cataract at five weeks, with complete penetrance. We previously localized the cataract-causing lens rupture 2 gene (lr2) to mouse chromosome 14. In the process of positional cloning of the lr2 gene, we determined the genomic organization of the critical region, defined by D14Mit262 and D14Mit86, and compared it to recently published map information. In addition, mutational analysis using reverse transcription polymerase chain reaction (RT-PCR) followed by direct sequencing as well as quantitative realtime PCR (RQ-PCR) was performed to investigate Adam28 and Adamdec1 as lr2 candidate genes in this study. There was no mutation cosegregating with the phenotype of CXSD mice, which excluded these genes as the lr2 gene. Identification of more transcripts from this region and their mutation analyses are required to isolate the lr2 gene.

show abstract

Section: Adam7mentioning

confidence: 99%

Genomic organization of the region spanning D14Mit262 and D14Mit86 on mouse chromosome 14 and exclusion of Adam28 and Adamdec1 as the cataract-causing gene, lr2

Kim

Rhee

Bae

et al. 2007

Cytogenet Genome Res

View full text Add to dashboard Cite

show abstract

Disease Gene Candidates Revealed by Expression Profiling of Retinal Ganglion Cell Development

Wang

Kunzevitzky²,

Dugas³

et al. 2007

J. Neurosci.

View full text Add to dashboard Cite

To what extent do postmitotic neurons regulate gene expression during development or after injury? We took advantage of our ability to highly purify retinal ganglion cells (RGCs) to profile their pattern of gene expression at 13 ages from embryonic day 17 through postnatal day 21. We found that a large proportion of RGC genes are regulated dramatically throughout their postmitotic development, although the genes regulated through development in vivo generally are not regulated similarly by RGCs allowed to age in vitro. Interestingly, we found that genes regulated by developing RGCs are not generally correlated with genes regulated in RGCs stimulated to regenerate their axons. We unexpectedly found three genes associated with glaucoma, optineurin, cochlin, and CYP1B1 (cytochrome P450, family 1, subfamily B, polypeptide 1), previously thought to be primarily expressed in the trabecular meshwork, which are highly expressed by RGCs and regulated through their development. We also identified several other RGC genes that are encoded by loci linked to glaucoma. The expression of glaucoma-linked genes by RGCs suggests that, at least in some cases, RGCs may be directly involved in glaucoma pathogenesis rather than indirectly involved in response to increased intraocular pressure. Consistent with this hypothesis, we found that CYP1B1 overexpression potentiates RGC survival.

show abstract

Fine Localization of Nefl and Nef3 and its Exclusion as Candidate Gene for Lens Rupture 2(lr2)

Cited by 2 publications

References 28 publications

Genomic organization of the region spanning <i>D14Mit262</i> and <i>D14Mit86</i> on mouse chromosome 14 and exclusion of <i>Adam28</i> and <i>Adamdec1</i> as the cataract-causing gene, <i>lr2</i>

Genomic organization of the region spanning <i>D14Mit262</i> and <i>D14Mit86</i> on mouse chromosome 14 and exclusion of <i>Adam28</i> and <i>Adamdec1</i> as the cataract-causing gene, <i>lr2</i>

Disease Gene Candidates Revealed by Expression Profiling of Retinal Ganglion Cell Development

Contact Info

Product

Resources

About