Identification and characterization of a gene at D10S94 in the MEN2A region.
We have identified a candidate for the gene responsible for multiple endocrine neoplasia type 2A (MEN 2A) at D10S94 in proximal 10q11.2. An evolutionarily conserved sequence from D10S94 was used as a probe to isolate cDNAs corresponding to a gene that we have termed mcs94-1. The gene spans 11 kb and has an unmethylated CpG island at its 5' end. The mcs94-1 transcript is approximately 2.4 kb in length and is widely expressed. It encodes a putative 415-amino-acid polypeptide that is similar in sequence to nucleolin, an abundant nucleolar protein. Mcs94-1 was examined as a candidate for MEN2A through nucleotide sequence analysis of mcs94-1 exons from an MEN 2A chromosome and its wildtype homologue from an MEN 2A patient. The major portion of the expressed mcs94-1 sequence was examined. No differences in sequence were found between the two alleles.
Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
H
H
McDonald
D
D
Smailus
H
H
Jenkins
K
K
Adams
N E
NE
Simpson
P J
PJ
Goodfellow
D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002879:Chromosomes, Human, Pair 10; D006224:Cricetinae; D005799:Genes, Dominant; D005819:Genetic Markers; D006801:Humans; D006822:Hybrid Cells; D051379:Mice / Q000235:genetics; D008969:Molecular Sequence Data; D009377:Multiple Endocrine Neoplasia / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics; D010750:Phosphoproteins / Q000235:genetics; D016133:Polymerase Chain Reaction; D016601:RNA-Binding Proteins; D012689:Sequence Homology, Nucleic Acid; D000097796:Nucleolin
D005819:Genetic Markers; D009687:Nuclear Proteins; D010750:Phosphoproteins; D016601:RNA-Binding Proteins; D000097796:Nucleolin