Bioinformatic Analysis of Two Proteins with Suspected Linkage to Pulmonary Atresia with Intact Ventricular Septum

  • Oscar Andrés Alzate Mejía
  • Antonio Jesús Pérez Pulido
Part of the Advances in Intelligent Systems and Computing book series (AISC, volume 232)


Pulmonary atresia with intact ventricular septum (PA-IVS) is a congenital heart disease characterized by occlusion of the pulmonary valve causing complete obstruction of the outflow tract from the right ventricle to the lungs. Some authors attribute the origin of disease to genetic causes and the mutation of genes WFDC8 and WFDC9 have been proposed as related to with its pathogenesis. Based on this suspicion, a bioinformatic analysis to their gene products was made to find the relationship between the mutation and disease.

Were reviewed the annotations, domains and structures of these proteins to study their biological characteristics; to find equivalent sequences in other species the orthologous of proteins were searched, so it was made a phylogenetic analysis and were searched conserved domains using alignments. Similarly, were searched the tissues in which genes are expressed to find its relation to heart and was studied the intergenic sequence to uncover regulatory sequences associated with cardiac development.

The results suggest that the human proteins WFDC8 and WFDC9, currently related to the immune system, they are also related to extracellular matrix proteins, and they could be expressed in heart tissue and embryonic, in addition, was found that the corresponding intergenic sequence has different binding sites for factors transcription related to the development of heart and heart valves.


Pulmonary atresia WFDC8 WFDC9 heart tissue 


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Copyright information

© Springer International Publishing Switzerland 2014

Authors and Affiliations

  • Oscar Andrés Alzate Mejía
    • 1
  • Antonio Jesús Pérez Pulido
    • 2
  1. 1.Docente Universidad Autónoma de ManizalesManizalesColombia
  2. 2.Docente Universidad Pablo de OlavideSevillaEspaña

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