INVESTIGADORES
WEINER Andrea Maria Julia
congresos y reuniones científicas
Título:
Analysis of zebrafish nolc1l: the orthologue of the human gene involved in Treacher Collins syndrome
Autor/es:
WEINER ANDREA; SCAMPOLI NADIA; CALCATERRA NORA
Lugar:
Puerto Madryn
Reunión:
Congreso; XLV Reunion Annual ? 45th Annual Meeting Argentine Society for Biochemistry and Molecular Biology; 2010
Resumen:
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Treacher Collins Syndrome
(TCS) is a congenital craniofacial disorder characterized by head and neck anomalies,
such as hypoplasia of the facial bones, cleft palate, and ear defects that
result in conductive deafness. TCS is caused by autosomal dominant mutations in
tcof1 gene. To date, the in vivo functions of tcof1 and its encoded protein, Treacle, are
poorly understood. The main goal of this work was to shed light on the tcof1 role during embryonic development using
zebrafish as animal model. The zebrafish tcof1
gene has not been described, but a homologue to mouse and human tcof1, called nolc1l, was found by in
silico genome analysis. The nolc1l
cDNA was cloned, and its expression pattern analyzed by semi-quantitative
RT-PCR and whole-mount in situ
hybridization during embryogenesis. High levels of mRNA were detected in 1-cell
stage, indicating its maternal origin. The lowest level was detected at 12
hours post-fertilization (hpf); the expression increased again from that stage
reaching a plateau at 24 hpf. Similarly to mammalian tcof1, nolc1l is
ubiquitously expressed until late somitogenesis stages, from which it becomes
localized to cephalic regions and the notochord. Finally, by using splicing
morpholinos we knocked down nolc1l
expression by generating dominant negative proteins. This is the first work
identifying the sequence and biological behavior of TCS gene in zebrafish.