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2zjb

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Revision as of 07:25, 18 October 2018

Crystal structure of the human Dmc1-M200V polymorphic variant

Structural highlights

2zjb is a 2 chain structure with sequence from Human. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance.
Gene:	DMC1 (HUMAN)
Resources:	FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT

Function

[DMC1_HUMAN] May participate in meiotic recombination, specifically in homologous strand assimilation, which is required for the resolution of meiotic double-strand breaks (By similarity).

Evolutionary Conservation

Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.

Publication Abstract from PubMed

The M200V polymorphism of the human DMC1 protein, which is an essential, meiosis-specific DNA recombinase, was found in an infertile patient, raising the question of whether this homozygous human DMC1-M200V polymorphism may cause infertility by affecting the function of the human DMC1 protein. In the present study, we determined the crystal structure of the human DMC1-M200V variant in the octameric-ring form. Biochemical analyses revealed that the human DMC1-M200V variant had reduced stability, and was moderately defective in catalyzing in vitro recombination reactions. The corresponding M194V mutation introduced in the Schizosaccharomyces pombe dmc1 gene caused a significant decrease in the meiotic homologous recombination frequency. Together, these structural, biochemical and genetic results provide extensive evidence that the human DMC1-M200V mutation impairs its function, supporting the previous interpretation that this single-nucleotide polymorphism is a source of human infertility.

Structural and functional analyses of the DMC1-M200V polymorphism found in the human population.,Hikiba J, Hirota K, Kagawa W, Ikawa S, Kinebuchi T, Sakane I, Takizawa Y, Yokoyama S, Mandon-Pepin B, Nicolas A, Shibata T, Ohta K, Kurumizaka H Nucleic Acids Res. 2008 Jul;36(12):4181-90. Epub 2008 Jun 19. PMID:18566005^[1]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

References

↑ Hikiba J, Hirota K, Kagawa W, Ikawa S, Kinebuchi T, Sakane I, Takizawa Y, Yokoyama S, Mandon-Pepin B, Nicolas A, Shibata T, Ohta K, Kurumizaka H. Structural and functional analyses of the DMC1-M200V polymorphism found in the human population. Nucleic Acids Res. 2008 Jul;36(12):4181-90. Epub 2008 Jun 19. PMID:18566005 doi:10.1093/nar/gkn362

1 Structural highlights
2 Function
3 Evolutionary Conservation
4 Publication Abstract from PubMed
5 References

Proteopedia Page Contributors and Editors (what is this?)

OCA

Retrieved from "http://52.214.119.220/wiki/index.php/2zjb"

@@ Line 1: / Line 1: @@
 ==Crystal structure of the human Dmc1-M200V polymorphic variant==
 <StructureSection load='2zjb' size='340' side='right' caption='[[2zjb]], [[Resolution|resolution]] 3.50&Aring;' scene=''>
@@ Line 4: / Line 5: @@
 <table><tr><td colspan='2'>[[2zjb]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2ZJB OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2ZJB FirstGlance]. <br>
 </td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">DMC1 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
-<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2zjb FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2zjb OCA], [http://pdbe.org/2zjb PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2zjb RCSB], [http://www.ebi.ac.uk/pdbsum/2zjb PDBsum]</span></td></tr>
+<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2zjb FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2zjb OCA], [http://pdbe.org/2zjb PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2zjb RCSB], [http://www.ebi.ac.uk/pdbsum/2zjb PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=2zjb ProSAT]</span></td></tr>
 </table>
 == Function ==
@@ Line 12: / Line 13: @@
 Check<jmol>
   <jmolCheckbox>
-    <scriptWhenChecked>select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/zj/2zjb_consurf.spt"</scriptWhenChecked>
+    <scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/zj/2zjb_consurf.spt"</scriptWhenChecked>
     <scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
     <text>to colour the structure by Evolutionary Conservation</text>
@@ Line 53: / Line 54: @@
 [[Category: Nucleus]]
 [[Category: Octamer]]
+[[Category: Polymorphism]]
 [[Category: Recombination]]
 [[Category: Ring protein]]

2zjb

From Proteopedia

Revision as of 07:25, 18 October 2018

Crystal structure of the human Dmc1-M200V polymorphic variant

Structural highlights

Function

Evolutionary Conservation

Publication Abstract from PubMed

References

Contents

Proteopedia Page Contributors and Editors (what is this?)

Views

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