@article {Pfeffer:2001:1019-6439:1293,
title = "The coding region of the human DLX6 gene contains a polymorphic CAG/CCG repeat",
journal = "International Journal of Oncology",
parent_itemid = "infobike://sp/ijo",
publishercode ="sp",
year = "2001",
volume = "18",
number = "6",
publication date ="2001-06-01T00:00:00",
pages = "1293-1297",
itemtype = "ARTICLE",
issn = "1019-6439",
eissn = "1791-2423",
url = "https://www.ingentaconnect.com/content/sp/ijo/2001/00000018/00000006/art00024",
author = "Pfeffer, Ulrich and Ferro, Paola and Pavia, Valentina and Trombino, Sonya and Dell'Eva, Raffaella and Merlo, Giorgio and Levi, Giovanni",
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.",
}