The chicken FMR1 gene is highly conserved with a CCT 5{prime} - untranslated repeat and encodes an RNA-binding protein

Journal Article · Mon Jan 01 00:00:00 EST 1996 · Genomics

DOI:https://doi.org/10.1006/geno.1996.0002· OSTI ID:478827

Price, D K; Zhang, F; Ashley, Jr, C T; Warren, S T ^[1]

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1. Emory Univ. School of Medicine, Atlanta, GA (United States)

The transcriptional silencing of the human gene, fragile X metal retardation 1 (FMR1), is due to abnormal methylation in response to an expanded 5{prime}-untranslated CGG trinucleotide repeat and accounts for most cases of fragile X syndrome, a frequent inherited form of metal retardation. Although the encoded fragile X mental retardation protein (FMRP) is known to have properties of a RNA-binding protein, the precise function of FMRP remains to be elucidated. We report the cloning of the chicken homolog of FMR1 and show strong evolutionary conservation, with nucleotide and amino acid identities of 85 and 92%, respectively, between chicken and human. In place of the mammalian CGG trinucleotide repeat, a 99-nt tripartite repetitive element containing a CCT trinucleotide repeat flanked on both sides by dinucleotide repeats was identified. Blocks of highly conserved 3{prime}-untranslated sequence were also found. Within the coding region, two copies each of the highly conserved K homology motif and the Arg-Gly-Gly (RGG) box motif, both ribonucleotide particle family domains implicated in RNA binding, were identified. Chicken FMRP was found to bind RNA in vitro, and this activity correlated with the presence of the carboxy-terminal portion of the protein that includes the RGG motifs. 49 refs., 7 figs.

• OSTI ID: 478827
• Journal Information: Genomics, Vol. 31, Issue 1; Other Information: PBD: 1 Jan 1996
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
HUMAN X CHROMOSOME
GENETIC MAPPING
PATIENTS
HEREDITARY DISEASES
MENTAL DISORDERS
GENES
TRANSCRIPTION
GENE MUTATIONS
METHYLATION
STRUCTURE-ACTIVITY RELATIONSHIPS
BIOLOGICAL EVOLUTION
PROTEINS
AMINO ACIDS
DNA-CLONING
POLYMERASE CHAIN REACTION
PROBES
ELECTROPHORESIS
STATISTICS
CHICKENS
NUCLEOTIDES
DNA SEQUENCING
RNA
CONTIGS