Highly challenging to sequence and long overlooked, the human Y chromosome's contributions to health and disease remain largely unknown. A new paper that presents, for the first time, the complete sequences of multiple human Y chromosomes from lineages from around the globe provides an essential step forward in understanding the roles of the Y chromosome in human evolution and biology.
Even as the field of human genomics forged ahead at an astonishing pace, the Y chromosome -- one of the sex chromosomes -- has long remained overlooked. It has been postulated that the human sex chromosomes once originated from a pair of structurally similar chromosomes, but subsequently one of the sex chromosomes, the ancestral Y chromosome, underwent significant degradation, losing 97%of its former complement of genes over many millions of years.
As a result, while the much larger and gene-rich other sex chromosome -- the X chromosome -- has been extensively studied, the Y chromosome has been often overlooked outside of male-based fertility studies. In a significant step forward for the genomics field, scientists from JAX, including first author and JAX Associate Research Scientist, Pille Hallast, Ph.D.
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