The human sex-reversing ATRX gene has a homologue on the marsupial Y chromosome, ATRY: Implications for the evolution of mammalian sex determination

Pask, Andrew J; Renfree, Marilyn B.; Graves, Jennifer A. Marshall

doi:10.1073/pnas.230424497

Cited by 69 publications

(68 citation statements)

References 40 publications

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“…Surprisingly, sequences from human ATRX detected, as well as an ATRX orthologue on the marsupial X, a sequence on the tammar wallaby Y we called ATRY (Pask et al 2000). A strategy of screening genes with DNA from physically isolated tammar wallaby Y chromosomes netted 11 more (Murtagh et al 2012).…”

Section: Kangaroos and Y Chromosome Degradationmentioning

confidence: 99%

How Australian mammals contributed to our understanding of sex determination and sex chromosomes

Graves

2016

Aust. J. Zool.

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Abstract. Marsupials and monotremes can be thought of as independent experiments in mammalian evolution. The discovery of the human male-determining gene, SRY, how it works, how it evolved and defined our sex chromosomes, well illustrates the value of comparing distantly related animals and the folly of relying on humans and mice for an understanding of the most fundamental aspects of mammalian biology. The 25th anniversary of the discovery of SRY seems a good time to review the contributions of Australian mammals to these discoveries.The discovery of the mammalian sex determining gene, SRY, was a milestone in the history of human genetics. SRY opened up investigations into the pathway by which the genital ridge (bipotential gonad) becomes a testis. Studies of Australian mammals were important in the story of the discovery of SRY, not only in refuting the qualifications of the first candidate sex-determining gene, but also in confirming the ubiquity of SRY and raising questions as to how it works. Studies in marsupials also led to understanding of how SRY evolved from a gene on an autosome with functions in the brain and germ cells, and to identifying the ancestors of other genes on the human Y. The discovery that platypus have sex chromosomes homologous, not to the human XY, but to the bird ZW, dated the origin of the therian SRY and the XY chromosomes it defined. This led to important new models of how our sex chromosomes function, how they evolved, and what might befall this gene and the Y chromosome it defines.

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Section: Kangaroos and Y Chromosome Degradationmentioning

confidence: 99%

How Australian mammals contributed to our understanding of sex determination and sex chromosomes

Graves

2016

Aust. J. Zool.

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“…Surprisingly, the little marsupial Y contains several other genes, all originating from the original therian X chromosome, but lost from the Y in placental mammals. ATRY was the first to be discovered (Pask et al 2000). Others were found by screening a tammar BAC library with DNA from a microdissected Y (Sankovic et al 2006).…”

Section: Kangaroo Sex Chromosomesmentioning

confidence: 99%

Kangaroo gene mapping and sequencing: insights into mammalian genome evolution

Graves

2013

Aust. J. Zool.

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Abstract. The deep divergence of marsupials and eutherian mammals 160 million years ago provides genetic variation to explore the evolution of DNA sequence, gene arrangement and regulation of gene expression in mammals. Following the pioneering work of Professor Desmond W. Cooper, emerging techniques in cytogenetics and molecular biology have been adapted to characterise the genomes of kangaroos and other marsupials. In particular, genetic and genomic work over four decades has shown that marsupial sex chromosomes differ significantly from the eutherian XY chromosome pair in their size, gene content and activity. These differences can be exploited to deduce how mammalian sex chromosomes, sex determination and epigenetic silencing evolved.

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“…We compared the expression of the X and Y gametologues in these tissues for (Delbridge et al 1997;Pask et al 2000). The X copies of both of these genes were widely expressed, whereas the Y copies were testis specific.…”

Section: Expression Of X and Y Gene Pairsmentioning

confidence: 99%

“…The marsupial X and Y lack a pseudoautosomal region (Sharp 1982), so are terminally differentiated and pair at meiosis by a completely different mechanism from that of eutherian mammals (Page et al , 2006. The Y chromosome of the model kangaroo (tammar wallaby, Macropus eugenii), for which a genome assembly was recently released (Renfree et al 2011), contains orthologs (separated by speciation) of three eutherian Y genes (SRY, RBMY, and KDM5D) (Foster et al 1992;Delbridge et al 1999;Waters et al 2001), along with the marsupial-specific ATRY (Pask et al 2000). ATRY is also on the Y in the gray short-tailed opossum (Carvalho-Silva et al 2004), but was lost from the Y chromosome in a eutherian mammal ancestor.…”

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confidence: 99%

Evolutionary history of novel genes on the tammar wallaby Y chromosome: Implications for sex chromosome evolution

et al. 2011

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We report here the isolation and sequencing of 10 Y-specific tammar wallaby (Macropus eugenii) BAC clones, revealing five hitherto undescribed tammar wallaby Y genes (in addition to the five genes already described) and several pseudogenes. Some genes on the wallaby Y display testis-specific expression, but most have low widespread expression. All have partners on the tammar X, along with homologs on the human X. Nonsynonymous and synonymous substitution ratios for nine of the tammar XY gene pairs indicate that they are each under purifying selection. All 10 were also identified as being on the Y in Tasmanian devil (Sarcophilus harrisii; a distantly related Australian marsupial); however, seven have been lost from the human Y. Maximum likelihood phylogenetic analyses of the wallaby YX genes, with respective homologs from other vertebrate representatives, revealed that three marsupial Y genes (HCFC1X/Y, MECP2X/Y, and HUWE1X/Y ) were members of the ancestral therian pseudoautosomal region (PAR) at the time of the marsupial/eutherian split; three XY pairs (SOX3/SRY, RBMX/Y, and ATRX/Y ) were isolated from each other before the marsupial/eutherian split, and the remaining three (RPL10X/Y, PHF6X/Y, and UBA1/UBE1Y) have a more complex evolutionary history. Thus, the small marsupial Y chromosome is surprisingly rich in ancient genes that are retained in at least Australian marsupials and evolved from testis-brain expressed genes on the X.

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The human sex-reversing ATRX gene has a homologue on the marsupial Y chromosome, ATRY: Implications for the evolution of mammalian sex determination

Cited by 69 publications

References 40 publications

How Australian mammals contributed to our understanding of sex determination and sex chromosomes

How Australian mammals contributed to our understanding of sex determination and sex chromosomes

Kangaroo gene mapping and sequencing: insights into mammalian genome evolution

Evolutionary history of novel genes on the tammar wallaby Y chromosome: Implications for sex chromosome evolution

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