Unknown,Transcriptomics,Genomics,Proteomics

Dataset Information

Microarray analysis of eyes only from 23-hpf wild-type and pitx2M64* homozygous mutant zebrafish embryos

ABSTRACT: We have developed a pitx2 knockout zebrafish line (c.190_197delATGTCGAC, p.(Met64*)) that recapitulates the characteristic phenotypes of PITX2-mediated Axenfeld-Rieger syndrome (ARS) as well as displays some unique ocular phenotypes that in humans have implicated possible PITX2 involvement.To begin to ascertain the downstream pathways that are disrupted in pitx2M64* homozygous mutants, RNA from 23-hpf wild-type and pitx2M64* homozygous eyes only was submitted for microarray analysis.To collect embryonic ocular tissues from mutant and wild-type embryos, whole eyes of 23-hpf embryos were dissected; wild-type and pitx2M64* homozygous mutant whole eyes were then pooled together respectively for RNA extractions. RNA was extracted from the collected eyes using TRIzol, assessed for quality and assigned RNA Integrity Numbers (RINs), and submitted as three independent collections each to OakLabs (Hennigsdorf, Germany) for transcriptome and statistical analysis.

ORGANISM(S): Danio rerio

SUBMITTER: Elena Semina

PROVIDER: E-MTAB-6463 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Publications

PITX2 deficiency and associated human disease: insights from the zebrafish model.

Hendee Kathryn E KE Sorokina Elena A EA Muheisen Sanaa S SS Reis Linda M LM Tyler Rebecca C RC Markovic Vujica V Cuturilo Goran G Link Brian A BA Semina Elena V EV

Human molecular genetics 20180501 10

The PITX2 (paired-like homeodomain 2) gene encodes a bicoid-like homeodomain transcription factor linked with several human disorders. The main associated congenital phenotype is Axenfeld-Rieger syndrome, type 1, an autosomal dominant condition characterized by variable defects in the anterior segment of the eye, an increased risk of glaucoma, craniofacial dysmorphism and dental and umbilical anomalies; in addition to this, one report implicated PITX2 in ring dermoid of the cornea and a few othe ...[more]

PMID: 29506241

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Dataset Information

Microarray analysis of eyes only from 23-hpf wild-type and pitx2M64* homozygous mutant zebrafish embryos

Publications

PITX2 deficiency and associated human disease: insights from the zebrafish model.

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