title: The coding region of the human DLX6 gene contains a polymorphic CAG/CCG repeat.
abstract: The region on chromosome 7q21-22 is frequently altered in several human neoplasias such as uterine leiomyoma, myeloid leukemia and breast cancer. The same region has also been linked to split hand/split foot malformation type 1 and to involutional osteoporosis. Our analysis of genes that map to this region has led to the identification of the so far unknown first exon of the homeobox gene DLX6, a mammalian homologue of the Drosophila distal-less gene. Distal-less is a downstream target of the trithorax transcription factors. Translocations involving the mammalian homologue of trithorax, ALL-1, leading to its constitutive activation cause leukemia. We describe here that the first exons of human and mouse DLX6 genes contain a multiple trinucleotide repeat region. We have analyzed the CAG repeat length in 90 subjects and were able to identify five alleles with 11 to 20 CAG repeats.
authors.affiliation: Laboratory of Molecular Biology, National Cancer Research Institute, I-16132 Genoa, Italy. upfeffer@cba.unige.it
authors.forename: U
authors.initials: U
authors.lastname: Pfeffer
authors.forename: P
authors.initials: P
authors.lastname: Ferro
authors.forename: V
authors.initials: V
authors.lastname: Pavia
authors.forename: S
authors.initials: S
authors.lastname: Trombino
authors.forename: R
authors.initials: R
authors.lastname: Dell'Eva
authors.forename: G
authors.initials: G
authors.lastname: Merlo
authors.forename: G
authors.initials: G
authors.lastname: Levi
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D003001:Cloning, Molecular; D004247:DNA / Q000032:analysis; D017931:DNA Primers / Q000737:chemistry; D005091:Exons / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D051379:Mice; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic; D014176:Protein Biosynthesis; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017386:Sequence Homology, Amino Acid; D012689:Sequence Homology, Nucleic Acid; D018911:Trinucleotide Repeats
chemical_list: C491014:DLX6 protein, human; D017931:DNA Primers; C100597:Dlx6 protein, mouse; D018398:Homeodomain Proteins; D004247:DNA