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- W137308678 abstract "RNA binding proteins are involved in a wide range of cellular processes in the nucleus and cytoplasm including regulation of pre-mRNA splicing, mRNA stability, translation efficiency and the transport of RNAs between the nucleus and the cytoplasm. The gene involved in the Fragile X syndrome encodes a protein that contains two types of sequence motifs found in RNA binding proteins: an RGG box as seen in hnRNP U and two KH (hnRNP K homology) domains. The FMR1 gene product binds RNA in vitro and a missense mutation in a highly conserved isoleucine residue in the KH domain of fmr1 impairs RNA binding, demonstrating the importance of the KH domain in the RNA binding ability of FMR1. We have identified a new gene, fxr1 (fmr1 cross-hybridizing related), that bears striking homology to the fmr1 gene. The two genes are highly homologous at the amino acid level. Fxr1 has two KH domains, as does fmr1. This suggests that fmr1 may be only one of a family of RNA binding proteins that have yet to be characterized, but are potentially important for normal cellular function. We are systematically mapping hnRNP genes related to fmrl as a first step towards investigating the role ofmore » these proteins in human disease states. We have mapped fxr1 to chromosome 12 using a somatic cell hybrid panel and are currently using YACs containing fxr1 to perform FISH to further pinpoint the exact location of fxr1. HnRNP K and U share common sequence motifs with fmr1 and fxr1 that seem to be important for RNA binding function. We are also mapping these genes by both somatic cell hybrid panels and by FISH with the corresponding YACs.« less" @default.
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- W137308678 date "1994-09-01" @default.
- W137308678 modified "2023-09-27" @default.
- W137308678 title "Mapping of a family of heterogeneous nuclear ribonucleoprotein [hnRNP] genes related to the fragile X gene - fmr1" @default.
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