Comparison of the human and murine ATRX gene identifies highly conserved, functionally important domains

Picketts, David J.; Tastan, Ayse O.; Higgs, Douglas R.; Gibbons, Richard J.

doi:10.1007/s003359900781

Cited by 65 publications

(50 citation statements)

References 16 publications

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“…The demonstration of an ATRX homologue on the marsupial X chromosome implies the presence of this gene on the X in the common therian ancestor more than 130 million years ago. As for the mouse Atrx, high sequence homology was observed between human and partial wallaby ATRX throughout exons 7, 8, and the first part of exon 9, corresponding to the zinc finger domain of the ATRX protein (27,39).…”

Section: Discussionmentioning

confidence: 96%

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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

Pask

Renfree

Graves

2000

Proc. Natl. Acad. Sci. U.S.A.

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Mutations in the ATRX gene on the human X chromosome cause X-linked ␣-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 testisdetermining 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.

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Section: Discussionmentioning

confidence: 96%

“…Article and publication date are at www.pnas.org͞cgi͞doi͞10.1073͞pnas.230424497 superfamily subgroup that contains genes involved in DNA recombination, repair, and regulation of transcription (26). A highly homologous ATRX gene has been identified on the mouse X chromosome (27).…”

mentioning

confidence: 99%

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

Pask

Renfree

Graves

2000

Proc. Natl. Acad. Sci. U.S.A.

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“…3) (Picketts et al 1998). The central portion of the molecule contains motifs that identify ATRX as a member of the SNF2 group of proteins.…”

Section: Characterization Of the Atrx Gene And Its Protein Productmentioning

confidence: 99%

-Thalassemia, Mental Retardation, and Myelodysplastic Syndrome

Gibbons

2012

Cold Spring Harbor Perspectives in Medicine

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“…Helicases alter DNA and RNA structures, remodel chromatin [24, 51, [61][62][63][64][65], and modulate access to the DNA template by transcriptional machinery. RNA polymerases that are involved in the elongation of RNA transcripts have been considered as helicases that unwind the dsDNA to expose the ssDNA strand that serves as the template for RNA synthesis [2].…”

Section: Functions Of Helicasesmentioning

confidence: 99%

Erratum to: Structure and Mechanisms of SF1 DNA Helicases

Raney

Byrd

Aarattuthodiyil

2012

Advances in Experimental Medicine and Biology

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Superfamily I is a large and diverse group of monomeric and dimeric helicases defined by a set of conserved sequence motifs. Members of this class are involved in essential processes in both DNA and RNA metabolism in all organisms. In addition to conserved amino acid sequences, they also share a common structure containing two RecA-like motifs involved in ATP binding and hydrolysis and nucleic acid binding and unwinding. Unwinding is facilitated by a "pin" structure which serves to split the incoming duplex. This activity has been measured using both ensemble and single-molecule conditions. SF1 helicase activity is modulated through interactions with other proteins.

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Comparison of the human and murine ATRX gene identifies highly conserved, functionally important domains

Cited by 65 publications

References 16 publications

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

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

-Thalassemia, Mental Retardation, and Myelodysplastic Syndrome

Erratum to: Structure and Mechanisms of SF1 DNA Helicases

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