In 1913, Alfred Henry Sturtevant published the results of experiments in which he showed how genes are arranged along a chromosome. Sturtevant performed those experiments as an undergraduate at Columbia University, in New York, New York, under the guidance of Nobel laureate Thomas Hunt Morgan. Sturtevant studied heredity using Drosophila, the common fruit fly. In his experiments, Sturtevant determined the relative positions of six genetic factors on a fly’s chromosome by creating a process called gene mapping. Sturtevant’s work on gene mapping inspired later mapping techniques in the twentieth and twenty-first centuries, techniques that helped scientists identify regions of the chromosome that when mutated cause organisms to develop abnormally and to create treatments to cure those kinds of disorders.

Y-chromosomes exist in the body cells of many kinds of male animals. Found in the nucleus of most living animal cells, the X and Y-chromosomes are condensed structures made of DNA wrapped around proteins called histones. The individual histones bunch into groups that the coiled DNA wraps around called a nucleosome, which are roughly 10 nano-meters (nm) across. The histones bunch together to form a helical fiber (30 nm) that spins into a supercoil (200 nm). During much of a cell's life, DNA exists in the 200 nm supercoil phase.

In 1959, Charles Edmund Ford and colleagues published “A Sex Chromosome Anomaly in a Case of Gonadal Dysgenesis (Turner’s Syndrome),” hereafter “A Sex Chromosome Anomaly,” in The Lancet. Turner syndrome is a chromosomal disorder that affects one in 2,000 female births and results in developmental issues such as short stature, infertility, and congenital heart disease. Prior to “A Sex Chromosome Anomaly,” researchers did not know the cause of Turner syndrome, but Ford and colleagues found that the cause is a sex chromosome irregularity. In the article, the team explains that they examined the cells of a person with Turner syndrome and determined that she had just one X chromosome instead of the typical two. Thus, they concluded that the cause of Turner syndrome is a missing X chromosome and called for a new classification of the condition. “A Sex Chromosome Anomaly” was one of the first papers to identify the cause of Turner syndrome, and it provided scientists with a better understanding of individuals with a nontypical sex chromosome pattern. 

In December of 2016, Margus Punab and colleagues published “Causes of Male Infertility: A 9-year Prospective Monocentre Study on 1737 Patients with Reduced Total Sperm Counts,” hereafter “Male Infertility,” in the journal Human Reproduction. The study examines the main causes of severe male factor infertility, or SMF infertility, which occurs when a male’s semen has a very low number of healthy sperm cells or contains atypically low levels of sperm cells. In “Male Infertility,” the authors determine the primary cause of SMF infertility in forty percent of their participants, and among those participants, they found that the primary causes of SMF infertility were varicoceles, or enlarged veins within the loose bag of skin holding the testicles. The authors did not determine the cause of SMF infertility in the remaining sixty percent of the cases, noting a gap in the current understanding of the causes of SMF infertility. “Male Infertility” was one of the first large-scale studies to reveal certain underlying causes of SMF infertility, and its conclusions have allowed researchers to investigate fertility solutions for male patients who would otherwise not be able to reproduce.