1ivt
From Proteopedia
(New page: 200px<br /><applet load="1ivt" size="450" color="white" frame="true" align="right" spinBox="true" caption="1ivt" /> '''NMR structures of the C-terminal globular do...) |
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'''NMR structures of the C-terminal globular domain of human lamin A/C'''<br /> | '''NMR structures of the C-terminal globular domain of human lamin A/C'''<br /> | ||
==Overview== | ==Overview== | ||
| - | Lamins are nuclear intermediate filaments that, together with | + | Lamins are nuclear intermediate filaments that, together with lamin-associated proteins, maintain nuclear shape and provide a structural support for chromosomes and replicating DNA. We have determined the solution structure of the human lamin A/C C-terminal globular domain which contains specific mutations causing four different heritable diseases. This domain encompasses residues 430-545 and adopts an Ig-like fold of type s. We have also characterized by NMR and circular dichroism the structure and thermostability of three mutants, R453W and R482W/Q, corresponding to "hot spots" causing Emery-Dreifuss muscular dystrophy and Dunnigan-type lipodystrophy, respectively. Our structure determination and mutant analyses clearly show that the consequences of the mutations causing muscle-specific diseases or lipodystrophy are different at the molecular level. |
==About this Structure== | ==About this Structure== | ||
| - | 1IVT is a [http://en.wikipedia.org/wiki/Single_protein Single protein] structure of sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http:// | + | 1IVT is a [http://en.wikipedia.org/wiki/Single_protein Single protein] structure of sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1IVT OCA]. |
==Reference== | ==Reference== | ||
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[[Category: Bonn, G.]] | [[Category: Bonn, G.]] | ||
[[Category: Couprie, J.]] | [[Category: Couprie, J.]] | ||
| - | [[Category: Courvalin, J | + | [[Category: Courvalin, J C.]] |
[[Category: Gilquin, B.]] | [[Category: Gilquin, B.]] | ||
[[Category: Hossenlopp, P.]] | [[Category: Hossenlopp, P.]] | ||
[[Category: Krimm, I.]] | [[Category: Krimm, I.]] | ||
| - | [[Category: Mornon, J | + | [[Category: Mornon, J P.]] |
[[Category: Ostlund, C.]] | [[Category: Ostlund, C.]] | ||
| - | [[Category: Worman, H | + | [[Category: Worman, H J.]] |
[[Category: Zinn-Justin, S.]] | [[Category: Zinn-Justin, S.]] | ||
[[Category: all sheet]] | [[Category: all sheet]] | ||
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[[Category: ig-fold]] | [[Category: ig-fold]] | ||
| - | ''Page seeded by [http:// | + | ''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Thu Feb 21 13:16:14 2008'' |
Revision as of 11:16, 21 February 2008
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NMR structures of the C-terminal globular domain of human lamin A/C
Overview
Lamins are nuclear intermediate filaments that, together with lamin-associated proteins, maintain nuclear shape and provide a structural support for chromosomes and replicating DNA. We have determined the solution structure of the human lamin A/C C-terminal globular domain which contains specific mutations causing four different heritable diseases. This domain encompasses residues 430-545 and adopts an Ig-like fold of type s. We have also characterized by NMR and circular dichroism the structure and thermostability of three mutants, R453W and R482W/Q, corresponding to "hot spots" causing Emery-Dreifuss muscular dystrophy and Dunnigan-type lipodystrophy, respectively. Our structure determination and mutant analyses clearly show that the consequences of the mutations causing muscle-specific diseases or lipodystrophy are different at the molecular level.
About this Structure
1IVT is a Single protein structure of sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
The Ig-like structure of the C-terminal domain of lamin A/C, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophy., Krimm I, Ostlund C, Gilquin B, Couprie J, Hossenlopp P, Mornon JP, Bonne G, Courvalin JC, Worman HJ, Zinn-Justin S, Structure. 2002 Jun;10(6):811-23. PMID:12057196
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