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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
Mutations in the ATRX gene on the human X chromosome cause X-linked α-thalassemia and mental retardation. XY patients with deletions or mutations in this gene display varying degrees of sex reversal, implicating ATRX in the development of the human testis. To explore further the role of ATRX in mamm...
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The National Academy of Sciences
2000
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pubmed-272022001-03-17 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 Renfree, Marilyn B. Marshall Graves, Jennifer A. Proc Natl Acad Sci U S A Biological Sciences Mutations in the ATRX gene on the human X chromosome cause X-linked α-thalassemia and mental retardation. XY patients with deletions or mutations in this gene display varying degrees of sex reversal, implicating ATRX in the development of the human testis. To explore further the role of ATRX in mammalian sex differentiation, the homologous gene was cloned and characterized in a marsupial. Surprisingly, active homologues of ATRX were detected on the marsupial Y as well as the X chromosome. The Y-borne copy (ATRY) displays testis-specific expression. This, as well as the sex reversal of ATRX patients, suggests that ATRY is involved in testis development in marsupials and may represent an ancestral testis-determining mechanism that predated the evolution of SRY as the primary mammalian male sex-determining gene. There is no evidence for a Y-borne ATRX homologue in mouse or human, implying that this gene has been lost in eutherians and its role supplanted by the evolution of SRY from SOX3 as the dominant determiner of male differentiation. The National Academy of Sciences 2000-11-21 2000-11-07 /pmc/articles/PMC27202/ /pubmed/11069290 Text en Copyright © 2000, The National Academy of Sciences |
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US National Library of Medicine |
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PubMed Central |
| language |
en |
| format |
Article |
| topic |
Biological Sciences |
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Biological Sciences Pask, Andrew Renfree, Marilyn B. Marshall Graves, Jennifer A. The human sex-reversing ATRX gene has a homologue on the marsupial Y chromosome, ATRY: Implications for the evolution of mammalian sex determination |
| description |
Mutations in the ATRX gene on the human X chromosome cause X-linked α-thalassemia and mental retardation. XY patients with deletions or mutations in this gene display varying degrees of sex reversal, implicating ATRX in the development of the human testis. To explore further the role of ATRX in mammalian sex differentiation, the homologous gene was cloned and characterized in a marsupial. Surprisingly, active homologues of ATRX were detected on the marsupial Y as well as the X chromosome. The Y-borne copy (ATRY) displays testis-specific expression. This, as well as the sex reversal of ATRX patients, suggests that ATRY is involved in testis development in marsupials and may represent an ancestral testis-determining mechanism that predated the evolution of SRY as the primary mammalian male sex-determining gene. There is no evidence for a Y-borne ATRX homologue in mouse or human, implying that this gene has been lost in eutherians and its role supplanted by the evolution of SRY from SOX3 as the dominant determiner of male differentiation. |
| author |
Pask, Andrew Renfree, Marilyn B. Marshall Graves, Jennifer A. |
| author_facet |
Pask, Andrew Renfree, Marilyn B. Marshall Graves, Jennifer A. |
| author_sort |
Pask, Andrew |
| title |
The human sex-reversing ATRX gene has a homologue on the
marsupial Y chromosome, ATRY: Implications for the evolution of mammalian sex determination |
| title_short |
The human sex-reversing ATRX gene has a homologue on the
marsupial Y chromosome, ATRY: Implications for the evolution of mammalian sex determination |
| title_full |
The human sex-reversing ATRX gene has a homologue on the
marsupial Y chromosome, ATRY: Implications for the evolution of mammalian sex determination |
| title_fullStr |
The human sex-reversing ATRX gene has a homologue on the
marsupial Y chromosome, ATRY: Implications for the evolution of mammalian sex determination |
| title_full_unstemmed |
The human sex-reversing ATRX gene has a homologue on the
marsupial Y chromosome, ATRY: Implications for the evolution of mammalian sex determination |
| title_sort |
human sex-reversing atrx gene has a homologue on the
marsupial y chromosome, atry: implications for the evolution of mammalian sex determination |
| publisher |
The National Academy of Sciences |
| publisher_facet |
The National Academy of Sciences |
| publishDate |
2000 |
| url |
https://ncbi.nlm.nih.gov/pmc/articles/PMC27202/ https://ncbi.nlm.nih.gov/pubmed/11069290 |
| _version_ |
1758993754602078208 |