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Publication : Mutation responsible for the mouse pygmy phenotype in the developmentally regulated factor HMGI-C.

First Author  Zhou X Year  1995
Journal  Nature Volume  376
Issue  6543 Pages  771-4
PubMed ID  7651535 Mgi Jnum  J:28571
Mgi Id  MGI:76094 Doi  10.1038/376771a0
Citation  Zhou X, et al. (1995) Mutation responsible for the mouse pygmy phenotype in the developmentally regulated factor HMGI-C [see comments]. Nature 376(6543):771-4
abstractText  Growth is one of the fundamental aspects in the development of an organism. Classical genetic studies have isolated four viable, spontaneous mouse mutants disrupted in growth, leading to dwarfism. Pygmy is unique among these mutants because its phenotype cannot be explained by aberrations in the growth hormone-insulin-like growth factor endocrine pathway. Here we show that the pygmy phenotype arises from the inactivation of Hmgi-c (ref. 6), a member of the Hmgi family which function as architectural factors in the nuclear scaffold and are critical in the assembly of stereospecific transcriptional complexes. Hmgi-c and another Hmgi family member, Hmgi(gamma) (ref. 10), were found to be expressed predominantly during embryogenesis. The HMGI proteins are known to be regulated by cell cycle-dependent phosphorylation which alters their DNA binding affinity. These results demonstrate the important role of HMGI proteins in mammalian growth and development.
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