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LIM-homeodomain genes in mammalian development and human disease

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Abstract.

The human and mouse genomes each contain at least 12 genes encoding LIM homeodomain (LIM-HD) transcription factors. These gene regulatory proteins feature two LIM domains in their amino termini and a characteristic DNA binding homeodomain. Studies of mouse models and human patients have established that the LIM-HD factors are critical for the development of specialized cells in multiple tissue types, including the nervous system, skeletal muscle, the heart, the kidneys, and endocrine organs such as the pituitary gland and the pancreas. In this article, we review the roles of the LIM-HD proteins in mammalian development and their involvement in human diseases.

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Abbreviations

bHLH:

basic helix–loop–helix

BMP:

bone morphogenetic protein

CNS:

central nervous system

CPHD:

combined pituitary hormone deficiency

FSH:

follicle-stimulating hormone

GABA:

gamma aminobutyric acid

GAP:

GTPase-activating protein

HD:

homeodomain

ISL:

islet

LHX:

LIM homeobox gene

LIM-HD:

LIM homeodomain

LMX:

LIM homeobox gene

MGE:

medial ganglionic eminence

NIDDM:

non-insulin-dependent diabetes mellitus

NPS:

nail-patella syndrome

RNAi:

RNA interference

SH3:

Src homology 3

SNP:

single nucleotide polymorphism

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Hunter, C.S., Rhodes, S.J. LIM-homeodomain genes in mammalian development and human disease. Mol Biol Rep 32, 67–77 (2005). https://doi.org/10.1007/s11033-004-7657-z

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