Linked Life Data

17564961

Source:http://linkedlifedata.com/resource/pubmed/id/17564961

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2007-6-13
pubmed:databankReference
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/EF467182, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/EF467183, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/EF467184, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/EF467185, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/EF467186, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/EF467187, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/EF467189, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/EF467190, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/EF467191, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/EF467192, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/EF467193, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/EF467194, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/EF467195, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/EF467196, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/EF467197, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/EF467198, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/EF467199, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/EF467200, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/EF467201, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/EF467202, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/EF467203, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/EF467204, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/EF467205, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/EF467207, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/EF467208, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/EF467209, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/EF467211, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/EF467212, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/EF467213, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/EF467214, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/EF467215, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/EF467216, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/EF467217, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/EF492217, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/EF492218, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/EF492219, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/EF492220
pubmed:abstractText
We identified a mutation in the CRYGD gene (P23S) of the gamma-crystallin gene cluster that is associated with a polymorphic congenital cataract that occurs with frequency of approximately 0.3% in a human population. To gain insight into the molecular mechanism of the pathogenesis of gamma-crystallin isoforms, we undertook an evolutionary analysis of the available mammalian and newly obtained primate sequences of the gamma-crystallin genes. The cataract-associated serine at site 23 corresponds to the ancestral state, since it was found in CRYGD of a lower primate and all the surveyed nonprimate mammals. Crystallin proteins include two structurally similar domains, and substitutions in mammalian CRYGD protein at site 23 of the first domain were always associated with substitutions in the structurally reciprocal sites 109 and 136 of the second domain. These data suggest that the cataractogenic effect of serine at site 23 in the N-terminal domain of CRYGD may be compensated indirectly by amino acid changes in a distal domain. We also found that gene conversion was a factor in the evolution of the gamma-crystallin gene cluster throughout different mammalian clades. The high rate of gene conversion observed between the functional CRYGD gene and two primate gamma-crystallin pseudogenes (CRYGEP1 and CRYGFP1) coupled with a surprising finding of apparent negative selection in primate pseudogenes suggest a deleterious impact of recently derived pseudogenes involved in gene conversion in the gamma-crystallin gene cluster.
pubmed:commentsCorrections
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