Dr. Berkowitz's research interests include mammalian germ cell development. The germ cell complement and the processes of germ cell development determine reproductive potential. Factors that reduce germ cell number or interfere with gametogenesis can limit or even preclude reproduction, leading to infertility. She is interested in understanding the molecular mechanisms that govern mammalian gametogenesis and uses the mouse as the model experimental system. Her studies focus on meiosis, meiotic recombination, and chromosome segregation, processes that are crucial to germ cell development and genome integrity.
About Dr. Berkowitz's Infertility Research
Infertility is a major medical concern that affects about 1 of every 10 individuals of childbearing age worldwide. Although a significant proportion of infertility is accounted for by identifiable causes, the molecular basis of these defects is often not known or well characterized. Low sperm count in infertile men and ovulatory dysfunction and diminished ovarian function in infertile women are examples. It is becoming increasingly clear that many more disorders in medicine, including infertility, have a genetic basis than was previously realized. It is the goal of Dr. Berkowitz's research to advance the field so that a better understanding of the underlying defects of infertility disorders will lead to improved treatments.
CTF18 encodes an evolutionarily conserved protein that is crucial for germline development in the fruitfly, and essential for the faithful transmission of chromosomes in yeast. Dr. Berkowitz generated a mouse model that lacks Chtf18, the orthologue of the Drosophila melanogaster gene, cutlet. She demonstrated that gametogenesis and fertility are severely impaired in both Chtf18-/- male and female mice. She also showed that loss of Chtf18 results in premature separation of homologous chromosomes during meiosis. Consistent with these data is that while Chtf18-/- mice are to a large extent viable, loss of Chtf18 results in significant embryonic lethality. Defects in these processes are known to contribute greatly to causes of aneuploidy in offspring, and aneuploidy is one of the most frequent types of genetic defects that occur during reproduction. Dr. Berkowitz's studies are designed to determine the roles CTF18/Chtf18 play in mammalian germ cell development and meiosis. She is examining the molecular mechanisms that control Chtf18 function in vivo, as well as the roles Chtf18 play in genome integrity of germ cells and somatic cells.
Better understanding of the roles of Chtf18 in mammals will broaden the knowledge of the underlying molecular aspects of gametogenesis and chromosomal segregation in mammals, and will provide insight into human infertility and reproductive disorders.