Employing ChIP-Seq to Identify Novel Genes and Pathways for Congenital Diaphragmatic Hernia (CDH)


Syed Ali

Document Type


Publication Date

Summer 2021

JAX Location

In: Student Reports, Summer 2021, The Jackson Laboratory


Congenital diaphragmatic hernia is a major congenital birth anomaly that results in the malformation of the diaphragm while presenting the additional phenotype of abnormal lung morphology. CDH, being a considerable factor in infant lethality and mortality, manifests at birth as an incomplete formation or eventration of the diaphragm (Longoni et al., 2006). In attempting to understand the genetic causes of the clinical characteristics of CDH, the Bult Lab has identified candidate genes including the transcription factors Pbx1 and Zfhx4 and has conducted studies of both genes through engineered mouse models to better understand their significance in the development of CDH. Moreover, techniques such as chromatin immunoprecipitation with high throughput sequencing has been employed to identify the target genes for Pbx1 and Zfhx4 to further understand how these genes contribute to the development of CDH. My research aims to utilize ChIP-Seq data from the CDH candidate gene Pbx1 to better understand its molecular pathology as well as identify any new genes or pathways that may be implicated in the congenital defect. This work identified Myh10 as a candidate gene for CDH and also revealed a potential functional network of muscle related genes

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