Mutations in laminin alpha 1 result in complex, lens-independent ocular phenotypes in zebrafish.

Mutations in laminin alpha 1 result in complex, lens-independent ocular phenotypes in zebrafish. Research Abstract Details 

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Mutations in laminin alpha 1 result in complex, lens-independent ocular phenotypes in zebrafish. Abstract Text:

Elena V Semina,Dmitry V Bosenko,Natalya C Zinkevich,Kelly A Soules,David R Hyde,Thomas S Vihtelic,Gregory B Willer,Ronald G Gregg,Brian A Link,

We report phenotypic and genetic analyses of a recessive, larval lethal zebrafish mutant, bal(a69), characterized by severe eye defects and shortened body axis. The bal(a69) mutation was mapped to chromosome 24 near the laminin alpha 1 (lama1) gene. We analyzed the lama1 gene sequence within bal(a69) embryos and two allelic mutants, bal(arl) and bal(uw1). Missense (bal(a69)), nonsense (bal(arl)), and frameshift (bal(uw1)) alterations in lama1 were found to underlie the phenotypes. Extended analysis of bal(a69) ocular features revealed disrupted lens development with subsequent lens degeneration, focal cornea dysplasia, and hyaloid vasculature defects. Within the neural retina, the ganglion cells showed axonal projection defects and ectopic photoreceptor cells were noted at inner retinal locations. To address whether ocular anomalies were secondary to defects in lens differentiation, bal(a69) mutants were compared to embryos in which the lens vesicle was surgically removed. Our analysis suggests that many of the anterior and posterior ocular defects in bal(a69) are independent of the lens degeneration. Analysis of components of focal adhesion signaling complexes suggests that reduced focal adhesion kinase activation underlies the anterior segment dysgenesis in lama1 mutants. To assess adult ocular phenotypes associated with lama1 mutations, genetic mosaics were generated by transplanting labeled bal cells into ocular-fated regions of wild-type blastulas. Adult chimeric eyes displayed a range of defects including anterior segment dysgenesis and cataracts. Our analysis provides mechanistic insights into the developmental defects and ocular pathogenesis caused by mutations in laminin subunits.

Mutations in laminin alpha 1 result in complex, lens-independent ocular phenotypes in zebrafish. Publishing Authors By Initials

EV Semina,DV Bosenko,NC Zinkevich,KA Soules,DR Hyde,TS Vihtelic,GB Willer,RG Gregg,BA Link,

For similar animals: chordata: vertebrates: fishes: cypriniformes: cyprinidae: zebrafish research abstracts see: animals: chordata: vertebrates: fishes: cypriniformes: cyprinidae: zebrafish research

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Mutations in laminin alpha 1 result in complex, lens-independent ocular phenotypes in zebrafish. Journal Published:

PUBLICATION TYPE: Research Support, N.I.H., Extr

Journal: Developmental biology

VOLUME: 299

Page Numbers: 63-77

Journal Abbreviation: Dev. Biol.

ISSN: 0012-1606

DAY: 12

MONTH: 07

YEAR: 2006

Mutations in laminin alpha 1 result in complex, lens-independent ocular phenotypes in zebrafish. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 372762

Mutations in laminin alpha 1 result in complex, lens-independent ocular phenotypes in zebrafish. Keywords Mesh Terms:

KEYWORDS: Zebrafish

MESH TERMS: embryology

Chemical & Substance for Abstract: Mutations in laminin alpha 1 result in complex, lens-independent ocular phenotypes in zebrafish. Information

Substance Name: laminin A

Registry Number: 151186-83-3

Grant and Affiliation Information for Mutations in laminin alpha 1 result in complex, lens-independent ocular phenotypes in zebrafish.

AFFILIATION: Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA.

Country: United States

AGENCY: United States NEI

GRANT: R01EY16060

ACRONYM: EY

MEDLINETA: Dev Biol

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