Journal Article

The Origin and Loss of the Ubiquitin Activating Enzyme Gene on the Mammalian Y Chromosome

Michael J. Mitchell, A. Wilcox Stephen, Jaclyn M. Watson, Jody L. Lerner, Diane R. Woods, Joan Scheffler, John P. Hearn, Colin E. Bishop and Jennifer A. Marshall Graves

in Human Molecular Genetics

Volume 7, issue 3, pages 429-434
Published in print March 1998 | ISSN: 0964-6906
Published online March 1998 | e-ISSN: 1460-2083 | DOI:
The Origin and Loss of the Ubiquitin Activating Enzyme Gene on the Mammalian Y Chromosome

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Mammalian sex chromosomes are thought to be descended from a homologous pair of autosomes: a testis-determining allele which defined the Y chromosome arose, recombination between the nascent X and Y chromosomes became restricted and the Y chromosome gradually lost its non-essential genetic functions. This model was originally inferred from the occurrence of few Y-linked genetic traits, pairing of the X and Y chromosomes during male meiosis and, more recently, the existence of X-Y homologous genes. The comparative analysis of such genes is a means by which the validity of this model can be evaluated. One well-studied example of an X-Y homologous gene is the ubiquitin activating enzyme gene (UBE1), which is X-linked with a distinct Y-linked gene in many eutherian (‘placental’) and metatherian (marsupial) mammals. Nonetheless, no UBE1 homologue has yet been detected on the human Y chromosome. Here we describe a more extensive study of UBE1 homologues in primates and a prototherian mammal, the platypus. Our findings indicate that UBE1 lies within the X-Y pairing segment of the platypus but is absent from the human Y chromosome, having been lost from the Y chromosome during evolution of the primate lineage. Thus UBE1 illustrates the key steps of ‘autosomal to X-specific’ evolution of genes on the sex chromosomes.

Journal Article.  4282 words.  Illustrated.

Subjects: Genetics and Genomics

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