Transactivation Function of an ∼800-bp Evolutionarily Conserved Sequence at the SHOX 3′ Region: Implication for the Downstream Enhancer

• Published in: American journal of human genetics Vol. 78; no. 1; pp. 167 - 170
• Main Authors: Fukami, Maki, Kato, Fumiko, Tajima, Toshihiro, Yokoya, Susumu, Ogata, Tsutomu
• Format: Journal Article
• Language: English
• Published: Chicago Elsevier Inc 2006; Cell Press; The American Society of Human Genetics
• Subjects: Genes; Genetics; Letter to the Editor; Patients
• DOI: 10.1086/499254
• ISSN: 0002-9297

(2005) reported an association of Léri-Weill dyschondrosteosis (LWD [MIM 12730O]) with a novel class of heterozygous pseudoautosomal region 1 (PAR1) deletions downstream of SHOX (short-stature homeoboxcontaining gene [MIM 312865]) in 12 patients with two copies of intact SHOX coding sequences. (2002) describing a monoallelic SHOX expression in the bone marrow fibroblasts taken from the distal radius of a patient with LWD with two copies of normal SHOX coding exons and hemizygosity for a region around DXYS233 downstream of SHOXsuggest the presence of a downstream enhancer for SHOX transcription around the ~30-kb SRO. Furthermore, FISH analysis was performed with an RP13-167H21 BAC probe defining a region from rs5946324 to DXYS233 (Ensembl Genome Browser); results show only a single signal in the mother and the daughter of family A and an obviously different signal intensity in the father and the daughter of family B (fig. 2).