Rose et Albert, ou le Tombeau d'Emma, par Mme Keralio-Robert. t. 1

Supplementary Dataset S5. GO analysis of cartilage-unique enhancers. (XLSX 1028 kb

Additional file 5: of Genes uniquely expressed in human growth plate chondrocytes uncover a distinct regulatory network

Supplementary Dataset S4. Cartilage-selective transcription factors and motif analysis. (XLSX 26 kb

Cartilage-selective genes identified in genome-scale analysis of non-cartilage and cartilage gene expression-1

<p><b>Copyright information:</b></p><p>Taken from "Cartilage-selective genes identified in genome-scale analysis of non-cartilage and cartilage gene expression"</p><p>http://www.biomedcentral.com/1471-2164/8/165</p><p>BMC Genomics 2007;8():165-165.</p><p>Published online 12 Jun 2007</p><p>PMCID:PMC1906768.</p><p></p>d and used for RNA profiling. (B) Toluidine blue stained longitudinal section of the distal head of the femur magnified 8.5 fold. The dissected portion included chondrocytes from the articular, reserve, proliferating, and hypertrophic zones

Cartilage-selective genes identified in genome-scale analysis of non-cartilage and cartilage gene expression-0

<p><b>Copyright information:</b></p><p>Taken from "Cartilage-selective genes identified in genome-scale analysis of non-cartilage and cartilage gene expression"</p><p>http://www.biomedcentral.com/1471-2164/8/165</p><p>BMC Genomics 2007;8():165-165.</p><p>Published online 12 Jun 2007</p><p>PMCID:PMC1906768.</p><p></p>d and used for RNA profiling. (B) Toluidine blue stained longitudinal section of the distal head of the femur magnified 8.5 fold. The dissected portion included chondrocytes from the articular, reserve, proliferating, and hypertrophic zones

Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to <i>SF3B4</i> Mutations in Rodriguez Acrofacial Dysostosis

<div><p>The acrofacial dysostoses (AFD) are a genetically heterogeneous group of inherited disorders with craniofacial and limb abnormalities. Rodriguez syndrome is a severe, usually perinatal lethal AFD, characterized by severe retrognathia, oligodactyly and lower limb abnormalities. Rodriguez syndrome has been proposed to be a severe form of Nager syndrome, a non-lethal AFD that results from mutations in <i>SF3B4</i>, a component of the U2 small nuclear ribonucleoprotein particle (U2 snRNP). Furthermore, a case with a phenotype intermediate between Rodriguez and Nager syndromes has been shown to have an <i>SF3B4</i> mutation. We identified heterozygosity for <i>SF3B4</i> mutations in Rodriguez syndrome, confirming that the phenotype is a dominant disorder that is allelic with Nager syndrome. The mutations led to reduced SF3B4 synthesis and defects in mRNA splicing, primarily exon skipping. The mutations also led to reduced expression in growth plate chondrocytes of target genes, including the <i>DLX5</i>, <i>DLX6</i>, <i>SOX9</i>, and <i>SOX6</i> transcription factor genes, which are known to be important for skeletal development. These data provide mechanistic insight toward understanding how <i>SF3B4</i> mutations lead to the skeletal abnormalities observed in the acrofacial dysostoses.</p></div

SF3B4 and DLX5 are co-expressed in the human growth plate.

<p>Immunohistochemical staining of the distal femur growth plate from a control fetus with (A) anti-SF3B4 and (B) anti-DLX5 antibodies. The hypertrophic zone is marked with double arrows. The periosteum is identified by white arrows. Images were obtained at 20X (SF3B4) and 10X (DLX5) magnification. Scale bars are 100 μM.</p

Summary of the ultrasound, clinical and radiographic findings.

<p>Summary of the ultrasound, clinical and radiographic findings.</p

MOESM1 of Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia

Additional file 1: Figure S1. Clinical findings in R06-303A. Major findings in R06-303A were small thorax, poor ossification of the phalanges, polydactyly in both hands and feet (a, b), kidneys showing thin cortex and areas of fibrosis (c, e, f, g) and pancreas (d) showing cystic changes in the tail

Skeletal developmental genes with reduced expression in R08-269A.

<p>Skeletal developmental genes with reduced expression in R08-269A.</p

Radiographic phenotypes of cases R14-123A and R08-269A & B.

<p>(A) A/P radiograph of the chest of R14-123^a showing small scapulae, 11 ribs, and abnormally formed hypoplastic humeri with radioulnar synostosis. (B) Hand radiograph showing oligodactyly, hypoplastic carpal bones and preaxial polydactyly. (C) Bilateral lower extremities showing hypoplastic or absent fibulae with small stippled calcanei. (D) A/P radiograph of R08-269A showing hypoplastic radii, oligodactyly, absent thumbs, thin fibulae, and club foot. (E) A/P radiograph of R08-269B showing 11 ribs, absent radii and ulnae.</p