Genome analysis of the platypus reveals unique signatures of evolution
https://www.nature.com/articles/nature06936
Abstract
We present a draft genome sequence of the platypus, Ornithorhynchus anatinus. This monotreme exhibits a fascinating combination of reptilian and mammalian characters. For example, platypuses have a coat of fur adapted to an aquatic lifestyle; platypus
females lactate, yet lay eggs; and males are equipped with venom similar to that of reptiles. Analysis of the first monotreme genome aligned these features with genetic innovations. We find that reptile and platypus venom proteins have been co-opted
independently from the same gene families; milk protein genes are conserved despite platypuses laying eggs; and immune gene family expansions are directly related to platypus biology. Expansions of protein, non-protein-coding RNA and microRNA families,
as well as repeat elements, are identified. Sequencing of this genome now provides a valuable resource for deep mammalian comparative analyses, as well as for monotreme biology and conservation.
The platypus genome, as well as the animal, is an amalgam of ancestral reptilian and derived mammalian characteristics. The platypus karyotype comprises 52 chromosomes in both sexes14,15, with a few large and many small chromosomes, reminiscent of
reptilian macro- and microchromosomes. Platypuses have multiple sex chromosomes with some homology to the bird Z chromosome16. Males have five X and five Y chromosomes, which form a chain at meiosis and segregate into 5X and 5Y sperm17,18. Sex
determination and sex chromosome dosage compensation remain unclear.
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