Access the full text.
Sign up today, get DeepDyve free for 14 days.
Stephanle Halford, R. Wadey, C. Roberts, S. Daw, Jennifer Whiting, Hllary O'Donnell, Ian Dunham, David Bentley, Elizabeth Lindsay, Antonio Baldini, Fiona Francis, Hans Lehrach, Robert Williamson, David Wilson, J. Goodship, I. Cross, J. Burn, Peter Scambler (1993)
Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease.Human molecular genetics, 2 12
Stephanie Halford, E. Lindsay, Manimekalai Nayudu, Alisoun Carey, Antonio Baldini, P. Scambler (1993)
Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11.Human molecular genetics, 2 2
A. Baldini, E. Lindsay (1994)
Mapping human YAC clones by fluorescence in situ hybridization using Alu-PCR from single yeast colonies.Methods in molecular biology, 33
(1994)
Structural characterization and chromosomal location of the gene encoding hmnan platelet glycoprotein Ib[3
John Collins, Andrew Mungall, Karen Badcock, Joanne Fay, Ian Dunham (1997)
The organization of the gamma-glutamyl transferase genes and other low copy repeats in human chromosome 22q11.Genome research, 7 5
(1997)
The DiGeorge critical region contains a Goosecoidlike ( GSCL ) homeobox gene that is expressed early in human development
M. Mattei, S. Halford, P. Scambler (1994)
Mapping of the Tuple1 gene to mouse chromosome 16A-B1.Genomics, 23 3
(1993)
Isolation of a putative transcriptional regulator from the region of 22ql 1 deleted in DiGeorge syndrome, Shprintzen syndrome
J. Sambrook, E. Fritsch, T. Maniatis (2001)
Molecular Cloning: A Laboratory Manual
(1989)
Molecular Cloning: A Laboratory Manual, 2nd ed
R. Debry, M. Seldin (1996)
Human/mouse homology relationships.Genomics, 33 3
B. Zieger, Y. Hashimoto, J. Ware (1997)
Alternative expression of platelet glycoprotein Ib(beta) mRNA from an adjacent 5' gene with an imperfect polyadenylation signal sequence.The Journal of clinical investigation, 99 3
N. Heisterkamp, M. Mulder, A. Langeveld, J. TenHoeve, Zhili Wang, B. Roe, J. Groffen (1995)
Localization of the human mitochondrial citrate transporter protein gene to chromosome 22Q11 in the DiGeorge syndrome critical region.Genomics, 29 2
M. Bedell, N. Jenkins, N. Copeland (1997)
Mouse models of human disease. Part I: techniques and resources for genetic analysis in mice.Genes & development, 11 1
S. Demczuk, R. Aledo, J. Zucman, O. Delattre, C. Desmaze, L. Dauphinot, P. Jalbert, G. Rouleau, G. Thomas, A. Aurias (1995)
Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity.Human molecular genetics, 4 4
A. Pizzuti, G. Novelli, A. Ratti, F. Amati, A. Mari, G. Calabrese, S. Nicolis, V. Silani, B. Marino, G. Scarlato, S. Ottolenghi, B. Dallapiccola (1997)
UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome.Human molecular genetics, 6 2
R. Ramírez-Solis, Pentao Liu, A. Bradley (1995)
Chromosome engineering in miceNature, 378
V. Lamour, Y. Lécluse, C. Desmaze, M. Spector, M. Bodescot, A. Aurias, M. Osley, M. Lipinski (1995)
A human homolog of the S. cerevisiae HIR1 and HIR2 transcriptional repressors cloned from the DiGeorge syndrome critical region.Human molecular genetics, 4 5
L. Mierop, L. Kutsche (1986)
Cardiovascular anomalies in DiGeorge syndrome and importance of neural crest as a possible pathogenetic factor.The American journal of cardiology, 58 1
P. Rizzu, E. Lindsay, Colin Taylor, H. O’Donnell, P. Scambler, A. Baldini (1996)
Cloning and comparative mapping of a gene deleted in DiGeorge and velocardiofacial syndromes conserved in the C.elegans genome.
(1997)
A region of mouse chromosome 16 is syntenic to the DiGeorge, Velocardiofacial syndrome minimal region
D. Kedra, M. Peyrard, I. Fransson, J. Collins, I. Dunham, B. Roe, J. Dumanski (1996)
Characterization of a second human clathrin heavy chain polypeptide gene (CLH-22) from chromosome 22q11.Human molecular genetics, 5 5
(1993)
Low-copy-number repeat sequences flank the DiGeorge/velocardio-facial syndrome at 22ql 1
Elizabeth Lindsay, Stephanie Halford, R. Wadey, Peter Scambler, Antonio Baldini (1993)
Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization.Genomics, 17 2
Z. Larin, A. Monaco, H. Lehrach (1991)
Yeast artificial chromosome libraries containing large inserts from mouse and human DNA.Proceedings of the National Academy of Sciences of the United States of America, 88
H. Sirotkin, B. Morrow, R. Dasgupta, R. Goldberg, S. Patanjali, G. Shi, L. Cannizzaro, R. Shprintzen, S. Weissman, R. Kucherlapati (1996)
Isolation of a new clathrin heavy chain gene with muscle-specific expression from the region commonly deleted in velo-cardio-facial syndrome.Human molecular genetics, 5 5
A. Botta, V. Jurecic, A. Pizzuti, G. Novelli, B. Dallapiccola, A. Baldini (1997)
Assignment of the gene for a ubiquitin fusion degradation protein (Ufd1l) to mouse chromosome 16B1-B4, syntenic with the Tuple1 gene.Cytogenetics and cell genetics, 77 3-4
P. Rizzu, E. Lindsay, C. Taylor, H. O’Donnell, A. Levy, P. Scambler, A. Baldini (1996)
Cloning and comparative mapping of a gene from the commonly deleted region of DiGeorge and Velocardiofacial syndromes conserved in C. elegansMammalian Genome, 7
(1994)
Mapping of the Hira gene to mouse chromosome 16A-B1
M. Budarf, B. Konkle, Laural Ludlow, D. Michaud, Mengrong Li, D. Yamashiro, D. McDonald-McGinn, E. Zackai, D. Driscoll (1995)
Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2.Human molecular genetics, 4 4
(1986)
DiGeorge syndrome and 22ql 1 rearrangements
S. Demczuk, G. Thomas, A. Aurias (1996)
Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes.Human molecular genetics, 5 5
W. Gong, B. Emanuel, B. Emanuel, J. Collins, David Kim, Zhili Wang, F. Chen, Guozhong Zhang, B. Roe, M. Budarf, M. Budarf (1996)
A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11.Human molecular genetics, 5 6
S şottlieb (1997)
1194Am J Hum Genet, 60
J. Lawrence, R. Singer, J. Mcneil (1990)
Interphase and metaphase resolution of different distances within the human dystrophin gene.Science, 249 4971
S. Hirotsune, S. Pack, S. Chong, C. Robbins, W. Pavan, D. Ledbetter, A. Wynshaw-Boris (1997)
Genomic organization of the murine Miller-Dieker/lissencephaly region: conservation of linkage with the human region.Genome research, 7 6
E. Lindsay, P. Rizzu, R. Antonacci, V. Jurecic, J. Delmas-Mata, C. Lee, U. Kim, P. Scambler, A. Baldini (1996)
A transcription map in the CATCH22 critical region: identification, mapping, and ordering of four novel transcripts expressed in heart.Genomics, 32 1
M. Yagi, S. Edelhoff, C. Disteche, G. Roth (1994)
Structural characterization and chromosomal location of the gene encoding human platelet glycoprotein IbβJournal of Biological Chemistry, 269
N. Galili, H. Baldwin, H. Baldwin, J. Lund, R. Reeves, W. Gong, Zhili Wang, B. Roe, B. Emanuel, S. Nayak, C. Mickanin, M. Budarf, C. Buck, C. Buck (1997)
A region of mouse chromosome 16 is syntenic to the DiGeorge, velocardiofacial syndrome minimal critical region.Genome research, 7 1
S. Gottlieb, Beverly Emanuel, D. Driscoll, B. Sellinger, Zhili Wang, Bruce Roe, Marcia Budarfl (1997)
The DiGeorge syndrome minimal critical region contains a goosecoid-like (GSCL) homeobox gene that is expressed early in human development.American journal of human genetics, 60 5
A. Lévy, S. Demczuk, A. Aurias, D. Depetris, M. Mattei, N. Philip (1995)
Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome.Human molecular genetics, 4 12
Wolfgang Bielke, R. Blaschke, G. Miescher, G. Zürcher, Anne-Catherine Andres, Andrew Ziemiecki (1994)
Characterization of a novel murine testis-specific serine/threonine kinase.Gene, 139 2
R. Wadey, S. Daw, C. Taylor, U. Atif, S. Kamath, S. Halford, H. O’Donnell, D. Wilson, J. Goodship, J. Burn (1995)
Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome.Human molecular genetics, 4 6
S. Augusseau, S. Jouk, P. Jalbert, M. Prieur (1986)
Di George syndrome and 22q11 rearrangementsHuman Genetics, 74
We have constructed a comparative map in mouse of the critical region of human 22q11 deleted in DiGeorge (DGS) and Velocardiofacial (VCFS) syndromes. The map includes 11 genes potentially haploinsufficient in these deletion syndromes. We have localized all the conserved genes to mouse Chromosome (Chr) 16, bands B1-B3. The determination of gene order shows the presence of two regions (distal and proximal), containing two groups of conserved genes. The gene order in the two regions is not completely conserved; only in the proximal group is the gene order identical to human. In the distal group the gene order is inverted. These two regions are separated by a DNA segment containing at least one gene which, in the human DGS region, is the most proximal of the known deleted genes. In addition, the gene order within the distal group of genes is inverted relative to the human gene order. Furthermore, a clathrin heavy chain-like gene was not found in the mouse genome by DNA hybridization, indicating that there is an inconsistent level of gene conservation in the region. These and other independent data obtained in our laboratory clearly show a complex evolutionary history of the DGS-VCFS region. Our data provide a framework for the development of a mouse model for the 22q11 deletion with chromosome engineering technologies.
Mammalian Genome – Springer Journals
Published: Dec 1, 1997
Keywords: Bacterial Artificial Chromosome; Bacterial Artificial Chromosome Clone; Yeast Artificial Chromosome; DiGeorge Syndrome; Clathrin Heavy Chain
Access the full text.
Sign up today, get DeepDyve free for 14 days.