Functional analysis of SPECC1L in craniofacial development and oblique facial cleft pathogenesis.

ABSTRACT:

Background

Oblique facial clefts, also known as Tessier clefts, are severe orofacial clefts, the genetic basis of which is poorly understood. Human genetics studies revealed that disruption in SPECC1L resulted in oblique facial clefts, demonstrating that oblique facial cleft malformation has a genetic basis. An important step toward innovation in treatment of oblique facial clefts would be improved understanding of its genetic pathogenesis. The authors exploit the zebrafish model to elucidate the function of SPECC1L by studying its homolog, specc1lb.

Methods

Gene and protein expression analysis was carried out by reverse-transcriptase polymerase chain reaction and immunohistochemistry staining. Morpholino knockdown, mRNA rescue, lineage tracing and terminal deoxynucleotidyl

SUBMITTER: Gfrerer L 

PROVIDER: S-EPMC4430087 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature