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Results

sa21196 a mutant allele that is caused by a point mutation at location 7617633 in the mecp2 gene (chromosome 8), which leads to a premature stop due to the change of cytosine nitrogenous base into thymine (C/T), which is guanine to adenine in the DNA (G/A) causing a stop codon UGA (TGA in DNA).

164422 unique sequences.

67 Differentially expressed sequences. in two-cell stage.

12 Differentially expressed sequences in Bud stage.

Questions ?

This stop codon causes an early truncation in exon 3 in both MECP2 isoforms.

Two-cell stage

Zebrafish as a model organism

Bud Stage

MECP2 a single protein with various functions

miRNA Expression in mecp2 Mutant Zebrafish Embryos

Presentation Outline

Discussion

MECP2 Structure & Topolgy.

MECP2 a single prrotein with various functions.

mecp2 sa21196 mutant allele in zebrafish.

Zebrafish as a model organism.

Aim of study

Experimental design

Experiment

Results

Discussion

Conclusion

Questions

MeCP2 Structure & Topology:

In humans, MECP2 protein is encoded by the MECP2 gene located in locus q28 on the X-chromosome (Xq28).

In Zebrafish, MECP2 protein is encoded by mecp2 gene located in chromosome 8.

MeCP2E1 & MeCP2E2.

Methyl binding domian (MBD), Transcriptional repression Domain (TRD), Intermediate Domain (ID), C&N-terminal domains (CTD & NTD)

Conclusion

miRNA Expression in Zebrafish Embryos:

Pre-Maternal Zygotic Transition (Two-Cell Stage):

Upregulated miRNAs:

dre-miR-27b: Targets genes involved in cartilage development (col9a2), cellular processes (mtor), and extracellular matrix (vcanb).

dre-miR-20a: Influences translation and embryogenesis through target genes (eif4g3, setd8b, aarsd1).

Downregulated miRNAs:

dre-miR-202: Affects cell motility and neuronal development via targets (cdc42, trim9).

dre-miR-25: Impacts cardiac development.

This study reveals that sa21196 mutant zebrafish embryos show significant miRNA dysregulation during key developmental stages, impacting essential processes like nervous system development, cardiac function, and angiogenesis. These disruptions highlight critical pathways and interactions, particularly involving MECP2, essential for proper embryonic development.

Maternal Zygotic Transition (Bud Stage):

dre-miR-128: Targets neurodevelopment genes (grm6a, bace1).

dre-miR-124: Affects sensory systems and neurodevelopment (pou4f1, sox9b, snap25a/b, neurod4).

dre-miR-7a: Involved in embryogenesis (insr, egfra, fgf17).

dre-miR-212: Linked to neurodevelopment, particularly myelin sheath formation (mbp, nfascb).

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