Inversion upstream of FOXF1 in a case of lethal alveolar capillary dysplasia with misalignment of pulmonary veins

American Journal of Medical Genetics, Part A

Volumn 161, Issue 4, 2013, Pages 764-770

  Parris, Toshima ^a   Nik, Ali Moussavi ^a   Kotecha, Sailesh ^b   Langston, Claire ^c   Helou, Khalil ^a   Platt, Craig ^d   Carlsson, Peter ^a  

^a UNIVERSITY OF GOTHENBURG   (Sweden)

^b CARDIFF UNIVERSITY   (United Kingdom)

^c TEXAS CHILDREN S HOSPITAL   (United States)

^d UNIVERSITY HOSPITALS BRISTOL NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

Alveolar capillary dysplasia; Atrioventricular septal defect; Chromatin mark; cis regulatory element; CTCF; Duodenal atresia; Enhancer; Forkhead; Insulator; Inversion; Misalignment of pulmonary veins

Indexed keywords

INTERFERON CONSENSUS SEQUENCE BINDING PROTEIN;

5' UNTRANSLATED REGION; ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEIN; ARTICLE; ATRIOVENTRICULAR SEPTAL DEFECT; CASE REPORT; CELL TYPE; CHROMATIN ASSEMBLY AND DISASSEMBLY; CHROMOSOME 16; COMPARATIVE GENOMIC HYBRIDIZATION; DUODENUM ATRESIA; DYSPLASIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOXF1 GENE; GENE; GENE LOCATION; GENETIC ASSOCIATION; GENETIC CONSERVATION; HUMAN; HUMAN GENOME; HUMAN TISSUE; INFANT; IRF8 GENE; NEWBORN; PERICENTRIC CHROMOSOME INVERSION; PRIORITY JOURNAL; PULMONARY VEIN MALFORMATION;

AUTOPSY; CHROMOSOME INVERSION; CHROMOSOMES, HUMAN, PAIR 16; COMPARATIVE GENOMIC HYBRIDIZATION; FATAL OUTCOME; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; INTERFERON REGULATORY FACTORS; PERSISTENT FETAL CIRCULATION SYNDROME;

EID: 84875527474     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35832     Document Type: Article

References (18)

1. Astorga J, Carlsson P. 2007. Hedgehog induction of murine vasculogenesis is mediated by Foxf1 and Bmp4. Development 134:3753-3761.
2. ENCODE Project Consortium. 2011. A user's guide to the encyclopedia of DNA elements (ENCODE). PLoS Biol 9:e1001046.
3. Fidlerová H, Senger G, Kost M, Sanseau P, Sheer D. 1994. Two simple procedures for releasing chromatin from routinely fixed cells for fluorescence in situ hybridization. Cytogenet Cell Genet 65:203-205.
4. Helou K, Wallenius V, Qiu Y, Ohman F, Ståhl F, Klinga-Levan K, Kindblom LG, Mandahl N, Jansson JO, Levan G. 1999. Amplification and overexpression of the hepatocyte growth factor receptor (HGFR/MET) in rat DMBA sarcomas. Oncogene 18:3226-3234.
5. Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW, Lee C. 2004. Detection of large-scale variation in the human genome. Nat Genet 36:949-951.
6. Jeong J, Mao J, Tenzen T, Kottmann AH, McMahon AP. 2004. Hedgehog signaling in the neural crest cells regulates the patterning and growth of facial primordia. Genes Dev 18:937-951.
7. Kalinichenko VV, Lim L, Stolz DB, Shin B, Rausa FM, Clark J, Whitsett JA, Watkins SC, Costa RH. 2001. Defects in pulmonary vasculature and perinatal lung hemorrhage in mice heterozygous null for the Forkhead Box f1 transcription factor. Dev Biol 235:489-506.
8. Kim I-M, Zhou Y, Ramakrishna S, Hughes DE, Solway J, Costa RH, Kalinichenko VV. 2005. Functional characterization of evolutionarily conserved DNA regions in forkhead box f1 gene locus. J Biol Chem 280:37908-37916.
9. Kouzarides T. 2007. Chromatin modifications and their function. Cell 128:693-705.
10. Langston C. 1991. Misalignment of pulmonary veins and alveolar capillary dysplasia. Pediatr Pathol 11:163-170.
11. Madison BB, McKenna LB, Dolson D, Epstein DJ, Kaestner KH. 2009. FoxF1 and FoxL1 link hedgehog signaling and the control of epithelial proliferation in the developing stomach and intestine. J Biol Chem 284:5936-5944.
12. Mahlapuu M, Enerbäck S, Carlsson P. 2001a. Haploinsufficiency of the forkhead gene Foxf1, a target for sonic hedgehog signaling, causes lung and foregut malformations. Development 128:2397-2406.
13. Mahlapuu M, Ormestad M, Enerbäck S, Carlsson P. 2001b. The forkhead transcription factor Foxf1 is required for differentiation of extra-embryonic and lateral plate mesoderm. Development 128:155-166.
14. Ormestad M, Astorga J, Carlsson P. 2004. Differences in the embryonic expression patterns of mouse Foxf1 and -2 match their distinct mutant phenotypes. Dev Dyn 229:328-333.
15. Ormestad M, Astorga J, Landgren H, Wang T, Johansson BR, Miura N, Carlsson P. 2006. Foxf1 and Foxf2 control murine gut development by limiting mesenchymal Wnt signaling and promoting extracellular matrix production. Development 133:833-843.
16. Phillips JE, Corces VG. 2009. CTCF: Master weaver of the genome. Cell 137:1194-1211.
17. Sen P, Thakur N, Stockton DW, Langston C, Bejjani BA. 2004. Expanding the phenotype of alveolar capillary dysplasia (ACD). J Pediatr 145:646-651.
18. Stankiewicz P, Sen P, Bhatt SS, Storer M, Xia Z, Bejjani BA, Ou Z, Wiszniewska J, Driscoll DJ, Maisenbacher MK, Bolivar J, Bauer M, Zackai EH, McDonald-McGinn D, Nowaczyk MMJ, Murray M, Hustead V, Mascotti K, Schultz R, Hallam L, McRae D, Nicholson AG, Newbury R, Durham-O'Donnell J, Knight G, Kini U, Shaikh TH, Martin V, Tyreman M, Simonic I, Willatt L, Paterson J, Mehta S, Rajan D, Fitzgerald T, Gribble S, Prigmore E, Patel A, Shaffer LG, Carter NP, Cheung SW, Langston C, Shaw-Smith C. 2009. Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am J Hum Genet 84:780-791.