LIM2
Lens fiber membrane intrinsic protein (MP18) (MP19) (MP20)
Publications[править]
To investigate the role of genetic variations in three known cataract-associated genes, gap junction protein α3 (GJA3), gap junction protein α8 (GJA8), lens intrinsic membrane protein 2 (LIM2), encoding lens fiber cell membrane proteins in the development of age-related cataracts. One hundred and forty-five sporadic age-related cataract patients and one hundred and fifty-six unrelated random healthy controls participated in this study. Genomic DNA was extracted from peripheral blood leukocytes. All exons of GJA3, GJA8, and LIM2 were sequenced after being amplified by polymerase chain reaction (PCR). The functional consequences of the mutations were analyzed using PolyPhen. We found five novel variations in 145 patients and none of them presented in the 156 controls. There are two variations in GJA3 (c.-39C>G, c. 415G>A); one in GJA8 (c. 823G>A), and two in LIM2 (c.57G>A, c.67A>C). PolyPhen predicted that the LIM2 c.67A>C mutation may have potential pathogenicity. The genetic mutation in GJA3, GJA8, and LIM2 may slightly contribute to the development of age-related cataracts. This study showed a potential relationship between lens fiber cell membrane protein genes and the development of age-related cataracts in the Chinese population.
MeSH Terms
- Aging
- Amino Acid Sequence
- Asian Continental Ancestry Group
- Base Sequence
- Cataract
- China
- Computational Biology
- Connexins
- Conserved Sequence
- DNA Mutational Analysis
- Eye Proteins
- Female
- Genetic Testing
- Genetic Variation
- Genetics, Population
- Humans
- Male
- Membrane Proteins
- Middle Aged
- Molecular Sequence Data
- Mutation
- Species Specificity
The rhombotin (RBTN1 or Ttg-1) gene was first identified at a chromosome translocation in a T-cell acute leukaemia and later used to isolate two related genes (RBTN2 or Ttg-2 and RBTN3). Complete characterization of these genes in man and mouse shows that all three encode cysteine-rich proteins with typical LIM domains. RBTN1 and RBTN3-derived proteins have 98% identity in the LIM domains but are located on separate chromosomes in man and in mouse while RBTN1 and RBTN2, both located on human chromosome 11p but are on separate chromosomes in mouse, are only 48% identical in this part of the protein. The exon organization of RBTN1 and RBTN3 genes are similar, both having an intron, absent from the RBTN2 gene, in the LIM2-encoding region. The remarkable similarity between rbtn-1 and rbtn-3 proteins is parallelled in their expression patterns in mouse development, since both genes show high expression in restricted areas of the brain, but little lymphoid expression. rbtn-2 expression, however, is more ubiquitous. This gene shows a low level of thymus expression but high expression in fetal liver, adult spleen and B-cell lines, consistent with a role in B-cell development. These results suggest multiple cellular targets for the action of these proteins during development.
MeSH Terms
- Adult
- Aging
- Amino Acid Sequence
- Animals
- Base Sequence
- Cell Line
- Chromosome Banding
- Chromosome Mapping
- Chromosomes, Human, Pair 11
- Cloning, Molecular
- DNA-Binding Proteins
- Embryonic and Fetal Development
- Exons
- Gene Expression Regulation
- Gene Library
- Hippocampus
- Humans
- LIM Domain Proteins
- Liver
- Mice
- Molecular Sequence Data
- Multigene Family
- Nuclear Proteins
- Oncogene Proteins
- Organ Specificity
- RNA Splicing
- Restriction Mapping
- Sequence Homology, Nucleic Acid
- Spleen
- Thymus Gland
- Transcription Factors