In 1989, a team of researchers collected skin samples from southern right whales (Eubalaena australis) using specialized equipment. Fast forward to today, and an exciting discovery emerged from those samples. Carla Crossman, a researcher at Saint Mary’s University in Canada, analyzed the genes and uncovered something completely unexpected: an intersex southern right whale.
Usually, male and female whales have clear chromosomal patterns—XX for females and XY for males. However, one sample, Eau10b, initially suggested it was female based on its XX chromosomes. But then the twist came—a gene called the sex-determining region Y (SRY) showed up, indicating the presence of a Y chromosome. This raised questions about Eau10b’s true sex.
Crossman confidently stated, “We are fairly confident that sex chromosomal aneuploidies are rare.” Genetic testing confirmed that Eau10b had an abnormal arrangement of chromosomes: it was XXY, a condition known as sex chromosomal aneuploidy. This was a groundbreaking find because it marked the first recorded instance of this occurrence in southern right whales.
Sex chromosomal aneuploidy can also produce variations like XXX or XYY, which arise when there’s an extra chromosome during cell division. This condition might affect fertility, complicating reproductive opportunities.
Detecting such anomalies isn’t easy. In humans, this condition is known as Klinefelter syndrome. Symptoms can include shorter stature, broad hips, and reduced facial hair, yet many cases go unnoticed until adulthood. Identifying similar conditions in whales is even tougher since these majestic creatures spend most of their lives underwater.
Crossman emphasized the need for more effective screening methods to identify aneuploidy in whales and other animals. “The more we analyze genetic data at a higher resolution, the more we find,” she noted. “This is the first documented case in a southern right whale, but similar conditions have been found in other marine mammals.”
A study published in Marine Mammal Science discusses these findings in detail. It highlights that while we know more about such chromosomal disorders in humans, equivalent data for other species, particularly wildlife, is still fundamentally lacking.
Efforts in wildlife conservation and genetics are crucial, as they help reveal the complexities of whale biology. By improving our understanding of genetic variations in these magnificent beings, researchers can better protect them and their habitats.
For more information on Klinefelter syndrome, you can visit the NHS website here.
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