High level of unequal meiotic crossovers at the origin of the 22q11.2 and 7q11.23 deletions

Human Molecular Genetics

Volumn 7, Issue 5, 1998, Pages 887-894

  Baumer, Alessandra ^a   Dutly, Fabrizio ^a   Balmer, Damina ^a   Riegel, Mariluce ^a,b   Tükel, Turgut ^c   Krajewska Walasek, Malgorzata ^d   Schinzel, Albert A ^a  

^a UNIVERSITY OF ZURICH   (Switzerland)

^b Service for Medical Genetics   (Brazil)

^c ISTANBUL UNIVERSITY   (Turkey)

^d CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CATCH 22 SYNDROME; CHILD; CHROMOSOME 22Q; CHROMOSOME 7Q; CHROMOSOME DELETION; CLINICAL ARTICLE; CONTROLLED STUDY; CROSSING OVER; DNA FLANKING REGION; FEMALE; GENETIC RECOMBINATION; HAPLOTYPE; HUMAN; HUMAN CELL; MALE; MEIOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENCE RISK; SCHOOL CHILD; SEGREGATION ANALYSIS; WILLIAMS BEUREN SYNDROME;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; CHROMOSOMES, HUMAN, PAIR 7; CROSSING OVER, GENETIC; FEMALE; HAPLOTYPES; HUMANS; MALE; MEIOSIS; PEDIGREE; RISK FACTORS; TRANSLOCATION, GENETIC; WILLIAMS SYNDROME;

EID: 0031945026     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.5.887     Document Type: Article

References (39)

1. Cooper, D.N., Krawczak, M. and Antonorakis, S.E. (1995) In Scriver, C.R., Beaudet, A.L., Sly. W.S and Valle. D. (eds), The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, Part I, pp. 259-291.
2. Wilson, D.I., Burn, J., Scambler, P.J. and Goodship, J. (1993) DiGeorge syndrome: part of CATCH 22. J. Med. Genet., 30, 852-856.
3. Williams, J.C.P., Barrat-Boyers, B.G. and Lowe, J.B. (1961) Supravalvular aortic stenosis. Circulation, 24, 1311-1318.
4. Beuren, A.J., Apitz, J. and Armjanz, D. (1962) Supravalvular aortic stenosis in association with mental retardation and facial appearance.Circulation, 26, 1235-1240.
5. Gong, W., Emanuel, B.S., Collins, C., Kim, D.H., Wang, Z., Chen, F., Zhang, G., Roe, B. and Budarf, M.L. (1996) A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11. Hum. Mol. Genet., 5, 789-800.
6. Lévy, A., Michel, G., Lemerrer, M. and Philip, N. (1997) Idiopathic thrombocytopenic purpura in two mothers of children with DiGeorge sequence: a new component manifestation of deletion 22q11? Am. J. Med. Genet., 69, 356-359.
7. Pérez Jurado, L.A., Peoples, R., Kaplan, P., Hamel, B.C.J. and Francke, U. (1996) Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth. Am. J. Hum. Genet., 59, 781-792.
8. Robinson, W.P., Waslynka, J., Bernasconi, F., Wang, M., Clark, S., Kotzot, D. and Schinzel, A. (1996) Delineation of 7q11.2 deletions associated with Williams-Beuren syndrome and mapping of a repetitive sequence to within and to either side of the common deletion. Genomics, 34, 17-23.
9. Fryer, A. (1996) Monozygotic twins with 22q11 deletion and discordant phenotypes. J. Med. Genet., 33, 173-176.
10. Hatchwell, E. (1996) Monozygotic twins with chromosome 22q11 deletion and discordant phenotype. J. Med. Genet., 33, 261-264.
11. Castorina, P., Selicorni, A., Bedeschi, F., Dalprà, L. and Larizza, L. (1997) Genotype-phenotype correlation in two sets of monozygotic twins with Williams syndrome. Am. J. Hum. Genet., 69, 107-111.
12. Goodship, J., Cross, I., Scambler, P. and Burn. J. (1995) Monozygotic twins with chromosome 22q11 deletion and discordant phenotype. J. Med. Genet., 32, 746-748.
13. Devriendt, K., Van Hoestenberghe, R., Van Hole, C., Devlieger, H., Gewillig, M., Moerman, P., Van den Berghe, H. and Fryns, J.P. (1997) Submicroscopic deletion in chromosome 22q11 in trizygous triplet siblings and their father. Clin. Genet., 51, 246-249.
14. Desmaze, C., Prieur, M., Amblard, F., Aikem, M., LeDeist, F., Demczuk, S., Zucman, J., Plougastel, B., Delattre, O., Croquette, M.-F., Brevière, G.-M., Huon, C., Le Merrer, M., Mathieu, M., Sidi, D., Stephan, J.-L. and Aurias, A. (1993) Physical mapping by FISH of the DiGeorge critical region (DGCR): involvement of the region in familial cases. Am J. Hum. Genet., 53, 1239-1249.
15. Kurahashi, H., Nakayama, T., Osugi, Y., Tsuda, E., Masuno, M., Imaizumi, K., Kamiya, T., Sano, T., Okada, S. and Nishisho, I. (1996) Deletion mapping of 22q11 in CATCH22 syndrome: identification of a second critical region. Am. J. Hum. Genet., 58, 1377-1381.
16. O'Donnell, H., McKeown, C., Gould, C., Morrow, B. and Scambler, P. (1997) Detection of an atypical 22q11 deletion that has no overlap with the DiGeorge syndrome critical region. Am. J. Hum. Genet., 60, 1544-1548.
17. Frangiskakis, J.M., Ewart, A.K., Morris, C.A., Mervis, C.B., Bertrand, J., Robinson, B.F., Klein, B.P., Ensing, G.J., Everett, L.A., Green, E.D., Pröschel, C., Gutowski, N.J., Noble, M., Antkinson, D.L., Odelberg, S.J. and Keating, M.T. (1996) LIM-kinase 1 hemizygosity implicated in impaired visuospacial constructive cognition. Cell. 86, 59-69.
18. Halford, S., Wadey, R., Roberts, C., Daw, S.C.M., Whiting, J.A., O'Donnell, H., Dunham, I., Bently, D., Lindsay, E., Baldini, A., Francis, F., Lehrach, H., Williamson, R., Wilson, D.I., Goodship, J., Cross, I., Burn, J. and Scambler, P.J. (1993) Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease. Hum Mol. Genet., 2, 2099-2107.
19. Chieffo, C., Garvey, N., Gong, W., Roe, B., Zhang, G., Silver, L., Emanuel B.S. and Budarf, M.L. (1997) Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbxl gene. Genomics, 43, 267-277.
20. Gong, W., Emanuel, B.S., Galili, N., Kim, D.H., Roe, B., Driscoll, D.A. and Budarf, M.L. (1997) Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region. Hum. Mol. Genet., 6, 267-276.
21. Gottlieb, S., Emanuel, B.S., Driscoll, D.A., Sellinger, B., Wang, Z., Roe, B. and Budarf, M.L. (1997) The DiGeorge syndrome minimal critical region contains a Goosecoid-like (GSCL) homeobox gene that is expressed early in human development. Am. J. Hum. Genet., 60, 1194-1201.
22. Kurahashi, H., Akagi, K., Inazawa, J., Ohta, T., Niikawa, N., Kayatani, F., Sano, T., Okada, S. and Nishisho, I. (1995) Isolation and characterization of a novel gene deleted in DiGeorge syndrome. Hum. Mol. Genet., 4, 541-549.
23. Lindsay, E.A., Rizzu, P., Antonacci, R., Jurecic, V., Delmas-Mata, J., Lee, C.-C., Kim, U.-J., Scambler, P.J. and Baldini, A. (1996) A transcriptional map in the CATCH22 critical region: identification, mapping, and ordering of four novel transcripts expressed in heart. Genomics, 32, 104-112.
24. Sirotkin, H., Morrow, B., Saint-Jore, B., Puech, A., Gupta, R.D., Pantanjali, S.R., Skoultchi, A., Weissman, S.M. and Kucherlapati, R. (1997) Identification, characterization, and precise mapping of a human gene encoding a novel membrane-spanning protein from the 22q11 region deleted in Velo-Cardio-Facial syndrome. Genomics, 42, 245-251.
25. Pizzuti, A., Novelli, G., Ratti, A., Amati, F., Mari, A., Calabrese, G., Nicolis, S., Silani, V., Marino, B., Scarlato, G., Ottolenghi, S. and Dallapiccola, B. (1997) UFDIL, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome. Hum. Mol. Genet., 6, 259-265.
26. Osborne, L.R., Martindale, D., Scherer, S.W., Shi, X.-M., Huizenga, J., Heng, H.H.Q., Costa, T., Pober, B., Lew, L., Brinkman, J., Rommens, J., Koop, B. and Tsui, L.-C. (1996) Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients. Genomics, 36, 328-336.
27. Osborne, L.R., Soder, S., Shi, X.-M., Pober, B., Costa, T., Scherer, S.W. and Tsui, L.C. (1997) Hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome. Am. J. Hum. Genet., 61, 449-452.
28. Du Montcel, S.T., Mendizabal, H., Aymé, S., Lévy, A. and Philip, N. (1996) Prevalence of 22q11 microdeletion. J. Med. Genet., 33, 719.
29. Greenberg, F. (1990) Williams syndrome professional symposium. Am J. Med. Genet., 6, 85-88.
30. Demczuk, S., Levy, A., Aubry, M., Croquette, M.-F., Philip, N., Prieur, M., Sauer, U., Bouvagnet, P., Rouleau, G.A., Thomas, G. and Aurias, A. (1995) Excess of deletions of maternal origin in the DiGeorge/Velo-cardio-facial syndromes. A study of 22 new patients and review of the literature. Hum. Genet., 96, 9-13.
31. Urbàn, Z., Helms, C, Fekete, G., Csiszar, K., Bonnet, D., Munnich, A., Donis-Keller, H. and Boyd, C.D. (1996) 7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover. Am. J. Hum. Genet., 59, 958-962.
32. Dutly, F. and Schinzel, A. (1996) Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome. Hum. Mol. Genet., 5, 1893-1898.
33. Carrozzo, R., Rossi, E., Christian, S.L., Kittikamron, K., Livieri, C., Corrias, A., Pucci, L., Fois, A., Simi, P., Bosio, L., Beccaria, L., Zuffardi, O. and Ledbetter, D.H. (1997) Inter- and intrachromosomal rearrangement are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome. Am. J. Hum. Genet., 61, 228-231.
34. Morrow, B., Goldberg, R., Carlson, C., Das Gupta, R., Sirotkin, H., Collins, J., Dunham, I., O'Donnell, H., Scambler, P., Shprintzen, R. and Kucherlapati, R. (1995) Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome. Am. J. Hum. Genet., 56, 1391-1403.
35. Robinson W.P., Dutly, F., Nicholls, R.D., Bernasconi, F., Peǹaherrera, M., Michaelis, R.C., Abeliovich, D. and Schinzel, A.A. (1998) The mechanisms involved in formation of deletions and duplications of 15q11-q13. J. Med. Genet., 35, 130-136.
36. Indik, Z., Yoon, K., Morrow, S.D., Cicila, G., Rosenbloom, J.C., Rosenbloom, J. and Omstein-Goldstein, N. (1987) Structure of the 3-prime region of the human elastin gene: great abundance of Alu repetitive sequences and few coding sequences. Connective Tissue Res., 16, 197-211.
37. Collins, J.E., Mungall, A.J., Badcock, K.L., Fay, J.M. and Dunham, I. (1997) The organization of the gamma-glutamyl transferase genes and other low copy repeats in human chromosome 22q11. Genome Res., 7, 522-531.
38. Eydoux, P., Kasprzak, L., Elliot, A.M. and Der Kaloustian, V.M. (1995) De novo deletion of 22q11 in two male siblings with different phenotypes. Am. J. Hum. Genet., 57, A113.
39. Schinzel, A.A., Basaran, S., Bernasconi, F., Karaman, B., Yuksel-Apak, M. and Robinson, W.P. (1994) Maternal uniparental disomy 22 has no impact on the phenotype. Am. J. Hum. Genet., 54, 21-24.