CMT type 2 and lamin associated proteins-research from Israel

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Abstract from Int Rev Cytol. 2003;226:1-62.

The nuclear lamina and its functions in the nucleus. (Mentions CMT Type

2)

Gruenbaum Y, Goldman RD, Meyuhas R, Mills E, Margalit A, Fridkin A,

Dayani Y, Prokocimer M, Enosh A.

Department of Genetics, The Institute of Life Sciences, The Hebrew

University of Jerusalem, Jerusalem 91904, Israel.

The nuclear lamina is a structure near the inner nuclear membrane and

the peripheral chromatin. It is composed of lamins, which are also

present in the nuclear interior, and lamin-associated proteins. The

increasing number of proteins that interact with lamins and the compound

interactions between these proteins and chromatin-associated proteins

make the nuclear lamina a highly complex but also a very exciting

structure. The nuclear lamina is an essential component of metazoan

cells. It is involved in most nuclear activities including DNA

replication, RNA transcription, nuclear and chromatin organization, cell

cycle regulation, cell development and differentiation, nuclear

migration, and apoptosis. Specific mutations in nuclear lamina genes

cause a wide range of heritable human diseases. These diseases include

Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy,

dilated cardiomyopathy (DCM) with conduction system disease, familial

partial lipodystrophy (FPLD), autosomal recessive axonal neuropathy

(Charcot-Marie-Tooth disorder type 2, CMT2), mandibuloacral dysplasia

(MAD), Hutchison Gilford Progeria syndrome (HGS), Greenberg Skeletal

Dysplasia, and Pelger-Huet anomaly (PHA). Genetic analyses in

Caenorhabditis elegans, Drosophila, and mice show new insights into the

functions of the nuclear lamina, and recent structural analyses have

begun to unravel the molecular structure and assembly of lamins and

their associated proteins.