View source for 2zjb


==Crystal structure of the human Dmc1-M200V polymorphic variant==
<StructureSection load='2zjb' size='340' side='right'caption='[[2zjb]], [[Resolution|resolution]] 3.50&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[2zjb]] is a 2 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. 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 [https://proteopedia.org/fgij/fg.htm?mol=2ZJB FirstGlance]. <br>
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 3.5&#8491;</td></tr>
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=2zjb FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2zjb OCA], [https://pdbe.org/2zjb PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2zjb RCSB], [https://www.ebi.ac.uk/pdbsum/2zjb PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2zjb ProSAT]</span></td></tr>
</table>
== Function ==
[https://www.uniprot.org/uniprot/DMC1_HUMAN 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 ==
[[Image:Consurf_key_small.gif|200px|right]]
Check<jmol>
  <jmolCheckbox>
    <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>
  </jmolCheckbox>
</jmol>, as determined by [http://consurfdb.tau.ac.il/ ConSurfDB]. You may read the [[Conservation%2C_Evolutionary|explanation]] of the method and the full data available from [http://bental.tau.ac.il/new_ConSurfDB/main_output.php?pdb_ID=2zjb ConSurf].
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== 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<ref>PMID:18566005</ref>

From MEDLINE&reg;/PubMed&reg;, a database of the U.S. National Library of Medicine.<br>
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<div class="pdbe-citations 2zjb" style="background-color:#fffaf0;"></div>
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Hikiba J]]
[[Category: Hirota K]]
[[Category: Ikawa S]]
[[Category: Kagawa W]]
[[Category: Kinebuchi T]]
[[Category: Kurumizaka H]]
[[Category: Mandon-Pepin B]]
[[Category: Nicolas A]]
[[Category: Ohta K]]
[[Category: Sakane I]]
[[Category: Shibata T]]
[[Category: Takizawa Y]]
[[Category: Yokoyama S]]