User:Andrea Foote/Sandbox 1: Difference between revisions

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== Introduction ==

'''Purine-rich element binding protein alpha''' (Purα or PurA) is a transcription factor with a molecular weight of ~35 kDa encoded by the PURA gene. It possesses ATP-independent dsDNA unwinding activity, and is known to bind sequence-specific purine-rich regions of ssDNA and ssRNA, recognizing GGN motifs. Purα is a member of the PUR family of proteins, which includes Purβ and two isoforms of Purγ. In its functional dimeric form Purα is known to repress expression of smooth muscle alpha actin (SMαA) encoded by the ''Acta2'' gene. It is also known to be involved in DNA replication and cell cycle regulation as well as mRNA translation. It plays a crucial role in nervous system development, and mutations in Purα have been implicated in two neurological diseases: PURA syndrome and Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) (see Disease section).

'''Purine-rich element binding protein alpha''' (Purα or PurA) is a transcription factor with a molecular weight of ~35 kDa encoded by the PURA gene. It possesses ATP-independent dsDNA unwinding activity, and is known to bind sequence-specific purine-rich regions of ssDNA and ssRNA, recognizing GGN motifs. Purα is a member of the PUR family of proteins, which includes Purβ and two isoforms of Purγ. In its functional dimeric form Purα is known to repress expression of smooth muscle alpha actin (SMαA) encoded by the ''Acta2'' gene. It is also known to be involved in DNA replication and cell cycle regulation as well as mRNA translation. It plays a crucial role in nervous system development, and mutations in Purα have been implicated in two neurological diseases: PURA syndrome and Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) (see Disease section).<ref>PMID:26744780</ref>

== Structure ==

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High-affinity nucleic acid-binding function is dependent on Purα dimerization. Purα forms homodimers in addition to heterodimers with Purβ. PurA is known to repress various genes including

<scene name='78/786627/5fgp_57and145/1'>Two aromatic residues</scene>, Y57 (repeat I) and F145 (repeat II) have been implicated in the DNA unwinding activity of PurA.<ref>PMID:26744780</ref>

== Development ==

Purα expression is highest during fetal development, specifically in the brain, spinal cord, and genitalia. In adult humans Purα expression decreases, and is restricted primarily to the brain and testes.

== Tissue Specificity ==

While Purα is a ubiquitously expressed protein in all cell types, it is generally found at low levels in most tissues. However, in adult humans and mice Purα expression is highest in the brain and spinal cord, and to a lesser extent in the testes. Purα has been shown to be upregulated in cardiac myocyte gap junctions following heart transplant in mice, colocalizing with actin.<ref>PMID:18344281</ref>

== Disease ==

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 <StructureSection load='5fgp' size='340' side='right' caption='''Drosophila Purα intramolecular domain (purple: PUR repeat I, orange: PUR repeat II) in complex with DNA (green). X-ray diffraction, 2Å resolution ([[5fgp]]).''' scene='78/786627/5fgp_intro/8'>
 == Introduction ==
-'''Purine-rich element binding protein alpha''' (Purα or PurA) is a transcription factor with a molecular weight of ~35 kDa encoded by the PURA gene. It possesses ATP-independent dsDNA unwinding activity, and is known to bind sequence-specific purine-rich regions of ssDNA and ssRNA, recognizing GGN motifs. Purα is a member of the PUR family of proteins, which includes Purβ and two isoforms of Purγ. In its functional dimeric form Purα is known to repress expression of smooth muscle alpha actin (SMαA) encoded by the ''Acta2'' gene. It is also known to be involved in DNA replication and cell cycle regulation as well as mRNA translation. It plays a crucial role in nervous system development, and mutations in Purα have been implicated in two neurological diseases: PURA syndrome and Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) (see Disease section).
+'''Purine-rich element binding protein alpha''' (Purα or PurA) is a transcription factor with a molecular weight of ~35 kDa encoded by the PURA gene. It possesses ATP-independent dsDNA unwinding activity, and is known to bind sequence-specific purine-rich regions of ssDNA and ssRNA, recognizing GGN motifs. Purα is a member of the PUR family of proteins, which includes Purβ and two isoforms of Purγ. In its functional dimeric form Purα is known to repress expression of smooth muscle alpha actin (SMαA) encoded by the ''Acta2'' gene. It is also known to be involved in DNA replication and cell cycle regulation as well as mRNA translation. It plays a crucial role in nervous system development, and mutations in Purα have been implicated in two neurological diseases: PURA syndrome and Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) (see Disease section).<ref>PMID:26744780</ref>
 == Structure ==
@@ Line 12: / Line 12: @@
 High-affinity nucleic acid-binding function is dependent on Purα dimerization. Purα forms homodimers in addition to heterodimers with Purβ. PurA is known to repress various genes including
 <scene name='78/786627/5fgp_57and145/1'>Two aromatic residues</scene>, Y57 (repeat I) and F145 (repeat II) have been implicated in the DNA unwinding activity of PurA.<ref>PMID:26744780</ref>
+== Development ==
+Purα expression is highest during fetal development, specifically in the brain, spinal cord, and genitalia. In adult humans Purα expression decreases, and is restricted primarily to the brain and testes.
+== Tissue Specificity ==
+While Purα is a ubiquitously expressed protein in all cell types, it is generally found at low levels in most tissues. However, in adult humans and mice Purα expression is highest in the brain and spinal cord, and to a lesser extent in the testes. Purα has been shown to be upregulated in cardiac myocyte gap junctions following heart transplant in mice, colocalizing with actin.<ref>PMID:18344281</ref>
 == Disease ==