Exploring the Mysteries of the Novel CHEK 1 Gene
Kristina Littlejohn and Gloria C. Regisford (Faculty Mentor) Department of Biology, Prairie View A&M University
An emerging field of science, bioinformatics aids in the advancement of medicine and research. As more genomes are sequenced and new genes are discovered, the need for more annotatation and characterization using bioinformatics increases. The purpose of this study was to annotate a novel gene that has been associated with the development of breast and ovarian cancer, the Checkpoint Kinase 1 gene (CHEK1 gene). It is hypothesized that the CHEK1 gene is a protein-coding gene that plays an important role in cell division. To analyze this novel gene, bioinformatics databases, GeneCards, Ensembl and the National Center for Biotechnology (NCBI) were used to explore the mysteries of the CHEK1 gene. In-silico studies found that the CHEK1 gene plays a vital role in the cell cycle arrest response to DNA damage. The CHEK 1 gene is mostly found in the cytoskeleton, nucleus, and cytosol of the cell. It was revealed that this gene is highly expressed in reproductive and secretory tissues, such as breast and ovarian tissues. Further studies showed that chimpanzees and opossums were the most closely related orthologs. Gene CHEK 1 has a total of 73 paralogs, with the MARK 4 gene having the highest similarity score of 77. Mutations of the CHEK 1 gene cause ovarian cancer, retinoblastoma, colorectal cancer, and breast cancer. There are 17 disorders associated with the mutations of this gene, with ovarian cancer having the highest association. The cytogenetic band of CHEK1 gene is 11q24.2, has 51,317 bases and 16 variants and participates in 5 pathways. The in-silico study of the CHEK1 gene is a protein-coding gene that potentially function as a tumor-suppressor and mutation of this gene could lead to the development of two deadly gynecoligcial diseases, breast and ovarian cancer. Keywords: CHEK1 Gene, Mutations, Cancer, Annotation
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