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Cloning and structural analysis of a part of the human epidermal growth factor receptor gene.

We screened a gene library constructed with human leukocyte chromosomal DNA fragments with an oligonucleotide probe complementary to the middle part of the cDNA for the human epidermal growth factor receptor. One of the genomic DNA clones obtained contains an insert of 36 kilobase pairs encoding 54% of the mature receptor protein. From the sequencing experiments, we were able to locate the exact site of the gene rearrangement, which had been previously suggested in some epidermoid carcinoma cell lines, in the intron preceding the exon coding for the hydrophobic transmembrane domain. Such a rearrangement must result in the removal of an authentic splicing acceptor site and the separation of the 3'-segment of the receptor gene which could encode a polypeptide homologous to the v-erb-B oncogene product responsible for chicken carcinogenesis.