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Example sentences for: lamins
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As specialized proteins of the intermediate filament protein family, lamin A/C is found at the inner nuclear membrane where it forms a scaffold that interacts with a network of membrane bound and nucleoplasmic proteins in addition to chromatin [ 3 4 5 ] . Mutations in the gene encoding the nuclear membrane protein emerin produce autosomal recessive Emery Dreifuss Muscular Dystrophy, a disorder that phenotypically overlaps the neuromuscular and cardiovascular features seen with lamin A/C mutations [ 6 ] . Consistent with this, lamin A/C directly binds emerin [ 7 8 ] . Lamins A and C are broadly expressed in many different cell types and are primarily expressed in terminally differentiated cells.
A subgroup of intermediate-filament proteins are the nuclear lamins, which are involved in attaching chromatin to the nuclear envelope and have recently been implicated in inherited human diseases [ 5 6 ] . Besides structural proteins of the cytoskeleton, the motor proteins that interact with them also contain coiled-coil motifs.
Although these nuclear epitopes appear similar to nuclear speckles, the latter have not been reported as IF-associated structures, but rather storage sites of RNA processing proteins (see Sanford 2002, for a current, brief review [ 5 ] ). However, as it is know that lamins are involved in nucleo-skeletal organization [ 23 ] and organization of DNA replication sites [ 4 ] , it would not be unexpected to find lamins associated with nuclear speckles, perhaps as structural organizers.
It is therefore likely that non-animal eukaryotes have a distinct set of nuclear envelope proteins that functionally replace the lamins.
The Drosophila mutations Mushroom body defect (a gene involved in the proliferation of neuronal precursor cells) and quick-to-court (a mutation that causes elevated sexual behavior) lie in two tissue-specifically expressed coiled-coil proteins of unknown function [ 20 21 ] . In humans and mouse models, specific point mutations in nuclear lamins are the cause for autosomal Emery-Dreifuss muscular dystrophy [ 22 23 ] .
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