Developmental genetics of the heart

Current Opinion in Genetics and Development

Volumn 6, Issue 3, 1996, Pages 322-325

  Burn, John ^a   Goodship, Judith ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ELASTIN; ENDOTHELIN 1;

AORTA SUPRAVALVULAR STENOSIS; CHROMOSOME 22Q; CHROMOSOME 4; CHROMOSOME ABERRATION; CONGENITAL HEART MALFORMATION; DEVELOPMENTAL GENETICS; GENE DELETION; GENE LOCATION; GENE LOSS; HEART; HUMAN; MOUSE; NEURAL CREST; NONHUMAN; PRIORITY JOURNAL; SHORT SURVEY;

EID: 0029900006     PISSN: 0959437X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0959-437X(96)80009-8     Document Type: Article

References (34)

1. Curran ME, Atkinson DL, Ewart AK, Morris CA, Leppert MF, Keating MT: The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis. Cell 1993, 73:159-168.
2. Ewart AK, Jin W, Atkinson D, Morris CA, Keating MT: Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene. J Clin Invest 1994, 93:1071-1077.
3. Olson TM, Michels VV, Urban Z, Csisztar K, Christiano AM, Driscoll DJ, Feldt RH, Boyd CD, Thibodeau SN: A 30kb deletion within the elastin gene results in familial supravalvular aortic stenosis. Hum Mol Genet 1995, 4:1677-1679.
4. Wilson DI, Burn J, Scambler P, Goodship J: Di George syndrome: part of CATCH 22. J Med Genet 1993, 30:852-856.
5. Halford S, Wadey R, Roberts C, Daw SCM, Whiting JA, O'Donnell H, Dunham I, Bentley D, Lindsay E, Baldini A et al.: Isolation of a putative transcriptional regulator from the region of 22q11 deleted in Di George syndrome, Shprintzen syndrome and familial congenital heart disease. Hum Mol Genet 1993, 2:2099-2107
6. Lamour V, Lécluse Y, Desmaze C, Spector M, Bodescot M, Aurias A, Osley MA, Lipinski M: A human homolog of the S. cerevisiae HIR1 and HIR2 transcriptional repressors cloned from the DiGeorge syndrome critical region. Hum Mol Genet 1995, 4:791-799.
7. Halford S, Wilson DJ, Daw SCM, Roberts C, Wadey R, Kamath S Wickremansinghe A, Burn J, Goodship J, Mattei M-G et al.: Isolation of a gene expressed during early embryogenesis from the region of 22q11 commonly deleted in DiGeorge syndrome. Hum Mol Genet 1993, 2:1577-1582.
8. Aubry M, Demczuk S, Desmaze C, Aikem M, Aurias A, Julien J, Rouleau GA: Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome. Hum Mol Genet 1993, 2:1583-1587.
9. Demczuk S, Aledo R, Zucman J, Delattre O, Desmaze C, Dauphinot L, Jalbert P, Rousleau GA, Thomas G, Aurias A: Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity. Hum Mol Genet 1995, 4:551-558.
10. Wadey R, Daw S, Taylor C, Atif U, Kamath S, Halford S, O'Donnell H, Wilson D, Goodship J, Burn J, Scambler P: Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced breakpoint associated with DiGeorge syndrome. Hum Mol Genet 1995, 4:1027-1033.
11. Kurahashi H, Akagi K, Inazawa J, Ohta T, Niikawa N, Kayatani F, Sano T, Okada S, Nishito J: Isolation and characterization of a novel gene deleted in DiGeorge syndrome. Hum Mol Genet 1995, 4:541-549.
12. 2. Budarf ML, Konkle BA, Ludlow LB, Michaud D, Li M, Yamashiro DJ, McDonald-McGinn D, Zackai EH, Driscoll DA: Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/Velo-cardio-facial chromosomal region in 22q11.2. Hum Mol Genet 1995; 4:763-766.
13. Budarf ML, Collins J, Gong W, Roe B, Wang Z, Bailey LC, Sellinger B, Michaud D, Driscoll DA, Emanuel BS; Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene. Nat Genet 1995, 10:269-278.
14. Kelly MD, Essex DW, Shapiro SS, Meloni J, Druck T, Huebner K, Konkle BA: Complementary DNA cloning of the alternatively expressed endothelial cell glycoprotein lbb (GPIbb) and localization of the GPIbb gene to chromosome 22. J Clin Invest 1994, 93:2417-2424.
15. Pizzuti A, Novelli G, Mari A, Ratti A, Colosimo A, Amali F, Penso D, Sanguiolo F, Calabrese G, Palka G: Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome. Am J Hum Genet 1996, 58:722-729.
16. Augusseau S, Jouk PS, Jalbert P, Prieur M: DiGeorge syndrome and 22q11 rearrangements. Hum Genet 1986, 74:206.
17. 7. Levy A, Demczuk S, Aurias A, Depétris D, Mattei M, Philipe N: Interstitial 22qH microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome. Hum Mol Genet 1995, 4:2417-2419. Much effort in the search for the gene, or genes, responsible for the CATCH22 phenotype has been directed towards cloning the breakpoint in a patient with a balanced translocation, and this had been achieved by three groups independently. This report describes a deletion that does not include the breakpoint region in a child with typical facial features and truncus arteriosus and raises the question whether effort has been concentrated in the wrong region. It also draws attention back to the possible role of the transcription factor TUPLE1, which is expressed in the bronchial arches and outflow tract of the heart but which has been discounted because the encoding gene is situated far from the balanced translocation breakpoint.
18. Sutherland HF, Wadey R, McKie JM, Taylor C, Atif U, Johnstone KA, Halford S, Kim U, Goodship J, Baldini A, Scambler PJ: Identification of a novel transcript disrupted by a balanced translocation asociated with DiGeorge syndrome. Am J Hum Genet 1996, in press. This is an intriguing paper detailing the identification of an alternatively spliced polyadenylated cDNA which spans the ADU breakpoint but does not appear to have any coding potential. The exons are conserved in the mouse, in which expression and alternative splicing also occurs. It remains to be seen whether this is some sort of pseudogene, which seems unlikely, of a functional RNA, which has few precedents.
19. Bleyl S, Nelson L, Odelberg SJ, Ruttenberg HD, Otterud B, Leppert M, Ward K: A gene for familial total anomalous pulmonary venous return maps to chromosome 4p13-q12. Am J Hum Genet 1995, 56:408-415.
20. Kurihara Y, Kurihara H, Oda H, Maemura K, Nagai R, Ishikawa T, Yazaki Y: Aortic arch malformations and ventricular septal defect in mice deficient in endothelin-1. J Clin Invest 1995, 96:293-300.
21. Meyer D, Birchmeier C: Multiple essential functions of neuregulin in development Nature 1995, 378:386-390.
22. Lee KF, Simon H, Chen H, Bates B, Hung MC, Hauser C: Requirement for neuregulin receptor erB2 in neural and cardiac development Nature 1995, 378:394-398.
23. Gassman M, Casagranda F, Orioli D, Simon H, Lai C, Klein R, Lemke G: Aberrant neural and cardiac development in mice lacking erB4 neuregulin receptor. Nature 1995, 378:390-394.
24. Shull MM, Ormsby I, Kier AB, Pawlowski S, Diehold RJ, Yin M, Allen R, Sidman C, Proetzel G, Calvin D et al.: Targeted disruption of the mouse transforming growth factor β1 gene results in multifocal inflammatory disease. Nature 1992, 359:693-699.
25. Letterio JJ, Geiser AG, Kulkarni AB, Roche NS, Sporn MB, Roberts AB: Maternal rescue of transforming growth factor- β1 null mice. Science 1994, 264:1936-1938.
26. Threadgill DW, Dlugosz AA, Hansen LA, Tennebaum T, Lichti U, Yee D, LaMantia C, Mourton T, Herrup K, Harns RC et al.: Targeted disruption of mouse EGF receptor: effect of genetic background on mutant phenotype. Science 1995, 269:230-234
27. Saga Y, Yagi T, Ikawa Y, Sakakura T, Aizawa S: Mice develop normally without tenascin. Genes Dev 1992, 6:1821-1831.
28. Yokoyama T, Copeland NG, Jenkins NA, Montgomery CA, Elder FFB, Overbeek PA: Reversal of left-right asymmetry: a situs inversus mutation. Science 1993, 260:679-682.
29. Yokoyama T, Harrison WR, Elder FFB, Overbeek PA: Molecular analysis of the inv insertional mutation. In Developmental Mechanisms of Heart Disease. Edited by Clark EB, Markwald RR, Takao A. New York: Futura Publishing Company; 1995:513-520.
30. Reaume AG, De Sousa PA, Kulkarni S, Langille BL, Zhu D, Davies TC, Juneja SC, Kidder GM, Rossant J: Cardiac malformation in neonatal mice lacking connexin43. Science 1995, 267:1831-1834. Connexin 43 is a gap junction protein that is expressed from the onset of zygotic transcription, supplying subunits for the earliest gap junctions that form in mammalian development. It is also widely expressed in embryonic and adult organs. Neonatal mice lacking connexin 43 display enlargement of the conus region overlying the right ventricular outflow tract and, on section, this region is filled with septae rather than being an open channel.
31. Britz-Cunningham SH, Shah MM, Zuppan CW, Fletcher WH: Mutations of the Connexin43 gap-junction in patients with heart malformations and defects of laterality. N Engl J Med 1995, 332:1323-1329. On the basis of the results presented in [30•], Britz Cunningham et al. in this study looked for mutations in connexin 43 in the hearts from 30 children who had had cardiac transplantation, Mutations were reported in seven cases, six of these had visceroatrial heterotaxia and one had an atrial septal defect. This paper generated great excitement, but two groups have now failed to reproduce these results in much larger series of children with visceroatrial heterotaxia.
32. Casey B, Ballabio A: Connexin43 mutations In sporadic and familial defects of laterality. N Engl J Med 1995, 333:941.
33. Penman Splitt M, Burn J, Goodship J: Connexin43 mutations in sporadic and familial defects of laterality [Letter]. N Engl J Med 1995, 333:941.
34. Winqvist R, Lundstrom K, Salminen M, Laatikainen M, Ulmanen I: The human catechol-o-methyltransferase (COMT) gene maps to band q11.2 of chromosome 22 and shows frequent RFLP with Bgll. Cytogenet Cell Genet 1992, 59:253-257.