Using bioinformatic approach to study human genes involved in male infertility

Abstract

The fertility process in men involves the production of mature sperm and reaching the egg and fertilizing it. Having enough sperm, enough semen to deliver sperm to the egg, and having sperm with proper morphology are essential. If either of these conditions are not met, it will result in infertility. Infertility has many causes, and in many patients, it may have more than one reason. Common causes of infertility include abnormal sperm, ovarian failure, pelvic adhesions, endometriosis, fallopian tube failure, and uterine problems, and in 5% to 10% of couples a specific factor cannot be diagnosed as a cause of infertility. Materials and Methods. In general, male infertility accounts for about 50% of infertile couples. In most cases, infertility is associated with genetic defects, including gene mutations. Causes of infertility from spermatogenesis, hormonal and obesity problems to abnormal sex cells can all be affected by genetic factors. According to human DNA sequencing, nowdays it is possible to study the effect of genes on the human cell and body. If a mutation alters the DNA structure, it can affect gene and ultimately cell, tissue and organ function. Most of these mutations will lead to a disease, and in the case of sex cells it can cause infertility. Therefore, bioinformatics study of the genes leading to infertility can be useful. In this project, we studied and analyzed a variety of genes related to male infertility disorders using bioinformatics-based computer programs and algorithms. Results: According to the results of comparing the CATSPER1, CATSPER2, CATSPER3 and CATSPER4 protein sequences with the sequences in the protein databases, we found that all four proteins belong to a super family of ion channels. The mutation energy data obtained from foldX show that from 7 spots identified for CATSPER1, 494 is suitable for mutation, 512 is neutral, and 449, 558, 605, 613, and 632 inappropriate points for mutation, in other words they are key points in the structure of this protein. Also from three spots identified for CATSPER2, 160 is neutral, 216 is favorable and is 263 key point for this protein.