NEW YORK (GenomeWeb) – The University of Cincinnati today announced that it has received a five-year, $1.9 million grant from the National Institutes of Health for research into the genetic components of craniofacial asymmetries. The National Science Foundation has also provided $519,000 to study the genetics of skin pigmentation.
The NIH funding will support genome-wide mapping which will allow researchers to locate the precise regions of the genome that could explain facial asymmetries in Astyanax mexicanus, a species of eyeless fish that lives in the caves of the Sierra de El Abra region of Mexico. The scientists will compare its genome to closely related surface-dwelling fish found in Mexico and the American Southwest that do not have facial abnormalities.
The scientists will first look at transcriptional signaling pathways in embryonic development, then look for genes that could cause asymmetries. Finally, they will look at embryonic cells in the neural crest that are important to cranial development.
Previous research suggests that genetic mutations leading to craniofacial distortions in the cavefish may be similar to human facial abnormalities such as non-syndromic cleft palate and hemifacial microsomia, conditions that can impair breathing or lead to emotional suffering from distorted appearance and often result in painful corrective surgeries.
"We want to understand if the right side of the face is different from the left side of the face within an individual and if so, we want to know why," Joshua Gross, an assistant professor of biology, said in a statement. "Nowadays, you can look at the precise expression level of every gene in an entire genome. We want to do that in the cavefish to explore what is happening on the right side that is different from the left side."
The three-year, NSF award will fund an additional avenue of genetic research involving the fish, which may help reveal the genetic causes of pigmentation changes in humans. Previous research has suggested that the gene that contributes to red hair and pale skin in humans was the same gene that caused reduced pigmentation in cavefish compared to the surface-dwelling species.
In Februrary, scientists from the University of Iowa published a study on functional gene variants that led to cleft lip in humans, identified with targeted sequencing.