A region of mouse chromosome 16 is syntenic to the DiGeorge, velocardiofacial syndrome minimal critical region

Genome Research

Volumn 7, Issue 1, 1997, Pages 17-26

  Galili, Naomi ^a   Baldwin, H Scott ^a,b   Lund, Jim ^c   Reeves, Roger ^c   Gong, Weilong ^b   Wang, Zhili ^d   Roe, Bruce A ^d   Emanuel, Beverly S ^b   Nayak, Sudhir ^a   Mickanin, Craig ^b   Budarf, Marcia L ^b   Buck, Clayton A ^a,b  

^a WISTAR INSTITUTE   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF OKLAHOMA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN SERINE THREONINE KINASE;

ARTICLE; CHROMOSOME 16; CHROMOSOME 22Q; CRANIOFACIAL MALFORMATION; DIGEORGE SYNDROME; EXON; GENE DELETION; GENETIC TRANSCRIPTION; HAPLOTYPE; HEART DISEASE; HOMEOBOX; HUMAN; MOUSE; NONHUMAN; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SYNTENY;

EID: 15144349175     PISSN: 10549803     EISSN: None     Source Type: Journal    
DOI: 10.1101/gr.7.1.17     Document Type: Article

References (43)

1. Augusseau, S., S. Jouk, P. Jalbert, and M. Prieur. 1986. DiGeorge syndrome and 22q11 rearrangements. Hum. Mol. Genet. 74: 206.
2. Ausubel, F.M., R. Brent, R.E. Kingston, D.D. Moore, J.G. Seidman, J.A. Smith, and K. Struhl, eds. 1995. Current protocols in molecular biology. Wiley & Sons, New York, NY.
3. Bielke, W., R.J. Blaschke, G.G. Miescher, G. Zurcher, A.C. Andres, and A. Ziemiecki. 1994. Characterization of a novel murine testis-specific serine/threonine kinase. Gene 139: 235-239.
4. Blum, M., S.T. Gaunt, K.W.Y. Cho, H. Steinbeisser, B. Blumberg, D. Bittner, and E.M. De Robertis. 1992. Gastrulation in the mouse: The role of the homeobox gene goosecoid. Cell 69: 1097-1106.
5. Bodenteich, A., S. Chissoe, Y.F. Wang, and B.A. Roe. 1993. Shotgun cloning as the strategy of choice to generate templates for high-throughput dideoxynucleotide sequencing. In Automated DNA sequencing and analysis techniques (ed. J.C. Venter), pp. 42-50. Academic Press, London, UK.
6. Bucan, M., B. Gatalica, P. Nolan, A. Chung, A. Leroux, M.H. Grossman, J.H. Nadeau, B.S. Emanuel, and M. Budarf. 1993. Comparative mapping of 9 human chromosome 22q loci in the laboratory mouse. Hum. Mol. Genet. 2: 1245-1252.
7. Budarf, M.L., J. Collins, W. Gong, B. Roe, Z. Wang, B. Sellinger, D. Michaud, D. Driscoll, and B.S. Emanuel. 1995. Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene. Nature Genet. 10: 269-288.
8. Cabin, D.E., M.P. Citron, J. McKee-Johnson, A.E. Mjaatvedt, and R.H. Reeves. 1996. Mouse chromosome 16. Mamm, Genome 7 (in press).
9. Conley, M.E., J.B. Beckwith, J.F.K. Mancer, and L. Tenckhoff. 1979. The spectrum of the DiGeorge syndrome. J. Pediatr. 94: 883-890.
10. Dear, S. and R. Staden. 1991. A sequence assembly and editing program for efficient management of large scale DNA sequencing projects. Nucleic Acids Res. 19: 3907-3911.
11. Demczuk, S., R. Aledo, J. Zucman, O. Delattre, C. Desmaze, L. Dauphinot, P. Jalbert, G.A. Rouleau, G. Thomas, and 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. Hum. Mol. Genet. 4: 551-558.
12. Demczuk, S., G. Thomas, and A. Aurias. 1996. Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes. Hum. Mol. Genet. 5: 633-638.
13. Dietrich, W., H. Katz, S.E. Lincoln, and H.S. Shin. 1992. A genetic map of the mouse suitable for typing intraspecific crosses. Genetics 131: 423-447.
14. Driscoll, D.A., M.L. Budarf, and B.S. Emanuel. 1992. A genetic etiology for DiGeorge syndrome: Consistent deletions and microdeletions of 22q11. Am. J. Hum. Genet. 50: 924-933.
15. Driscoll, D.A., J. Salvin, B. Sellinger, M.L. Budarf, D.M. McDonald-McGinn, E.H. Zackai, and B.S. Emanuel. 1993. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: Implications for genetic counseling and prenatal diagnosis. J. Med. Genet. 30: 813-817.
16. Dutton, C.M., C. Paynton, and S.S. Sommer. 1993. General method for amplifying regions of very high G + C content. Nucleic Acids Res. 21: 2953-2954.
17. Emanuel, B.S., D. Driscoll, E. Goldmuntz, S. Baldwin, J. Biegel, E.H. Zackai, D. McDonald-McGinn, B. Sellinger, N. Gorman, S. Williams, and M.L. Budarf. 1993. Molecular and phenotypic analysis of the chromosome 22 microdeletion syndromes. In The phenotypic mapping of Down syndrome and other aneuploid conditions (ed. C. Epstein), pp. 207-224. Wiley-Liss, New York, NY.
18. Goldmuntz, E., D. Driscoll, M.L. Budarf, E.H. Zackai, D.M. McDonald-McGinn, J.A. Biegel, and B.S. Emanuel. 1993. Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects. J. Med. Genet. 30: 807-812.
19. Goldmuntz, E., Z. Wang, B.A. Roe, and M.L. Budarf. 1996. Cloning, genomic organization and chromosomal localization of human citrate transport protein to the DiGeorge/velocardiofacial syndrome minimal critical region. Genomics 33: 271-276.
20. Gong, W., B.S. Emanuel, J. Collins, D.H. Kim, Z. Wang, F. Chen, G. Zhang, B. Roe, and M.L. Budarf. 1996. A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11. Hum. Mol. Genet. 5: 789-800.
21. Grossman, M.H., B.S. Emanuel, and M.L. Budarf. 1992. Chromosomal mapping of the human catechol-O-methyltransferase gene to 22q11.1-q11.2. Genomics 12: 822-825.
22. Halford, S., R. Wadey, C. Roberts, S.C.M. Daw, J.A. Whiting, H. O'Donnell, I. Dunham, D. Bentley, E.A. Lindsay, A. Baldini, F. Francis, H. Lehrach, R. Williamson, D.I. Wilson, J. Goodship, I. Cross, J. Burn, and P.J. Scambler. 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.
23. Hanks, S.K. and T. Hunter. 1995. The eukaryotic protein kinase superfamily: Kinase (catalytic) domain structure and classification. FASEBJ. 9: 576-596.
24. Heisterkamp, N., M.P. Mulder, A. Langeveld, J.T. Hoeve, Z. Wang, B.A. Roe, and J. Groffen. 1995. Localization of the human mitochondrial citrate transporter protein gene to chromosome 22q11 in the DiGeorge syndrome critical region. Genomics 29: 451-456.
25. Irving, N.G., M.P. Citron, and R.H. Reeves. 1993. The positions of twelve simple sequence repeat markers relative to reference markers on mouse chromosome 16. Mamm. Genome 4: 364-367.
26. Kedra, D., M. Peyrard, I. Fransson, J.E. Collins, I. Dunham, B.A. Roe, and J.P. Dumanski. 1996. Characterization of a second human clathrin heavy chain polypeptide gene (CLH-22) from chromosome 22q11. Hum. Mol. Genet. 5: 625-631.
27. Kirby, M.L. and D.E. Bockman. 1984. Neural crest and normal development: A new perspective. Anat. Rec. 209: 1-6.
28. Koop, B.F. and L. Hood. 1994. Striking sequence similarity over almost 100 kilobases of human and mouse T cell receptor DNA. Nature Genet. 7: 48-53.
29. Lammer, E.J. and J.M. Opitz. 1986. The DiGeorge anomaly as a developmental field defect. Am. J. Med. Genet. 29: 113-127.
30. Levy, A., S. Demczuk, A. Aurias, D. Depetris, M. Mattei, and W. Philip. 1995. Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome. Hum. Mol. Genet. 4: 2417-2419.
31. Lindsay, E.A., P. Rizzu, R. Antonacci, V. Jurecic, J. Delmas-Mata, C. Lee, U. Kim, P.J. Scambler, and A. Baldini. 1996. A transcription map in the CATCH22 critical region: Identification, mapping and ordering of four novel transcripts expressed in heart. Genomics 32: 104-112.
32. Miller, R.D., J.H. Ozaki, and R. Riblet. 1993. The mouse severe combined immune deficiency (scid) mutation is closely linked to the B-cell-specific developmental genes VpreB and lambda 5. Genomics 16: 740-744.
33. Nadeau, J., M.T. Davisson, D.P. Doolittle, P. Grant, A.L. Hillyard, M.R. Kosowsky, and T.H. Roderick. 1992. Comparative map for mice and humans. Mamm. Genome 3: 480-536.
34. Ramirez-Solis, R., P. Liu , and A. Bradley. 1995. Chromosome engineering in mice. Nature 378: 720-724.
35. Reeves, R.H., M.R. Crowley, B.F. O'Hara, and J.D. Gearhart. 1990. Sex strain and species differences affect recombination across an evolutionary conserved segment of mouse Chromosome 16. Genomics 8: 141-148.
36. Reeves, R.H., M.R. Crowley, W.S. Mosely, and M.F. Seldin. 1991. Comparison of interspecific to intersubspecific backcrosses demonstrates sex and species differences in recombination on mouse chromosome 16. Mamm. Genome 1: 158-164.
37. Rivera-Perez, J.A., M. Mallo, M. Gendron-Maguire, T. Gridley, and R.R. Behringer. 1995. goosecoid is not an essential component of the mouse gastrula organizer but is required for craniofacial and rib development. Development 121: 3005-3012.
38. Sambrook, J., E.F. Fritsch, and T. Maniatis. 1989. Molecular cloning: A laboratory manual. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
39. Scott, M.P., J.W. Tamkun, and G.W. Hartzell III. 1989. The structure and function of the homeodomain. Biochem. Biophys. Acta 989: 25-37.
40. Sirotkin, H.A., B.A. Morrow, R. DasGupta, R. Goldberg, S.R. Patanjali, G. Shi, L. Cannizzaro, R. Shprintzen, S.M. Weissman, and 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. Hum. Mol. Genet. 5: 617-624.
41. Stevens, C.A., J.C. Carey, and A.O. Shigeoka. 1990. DiGeorge anomaly and velo-cardio-facial syndrome. Pediatrics 85: 526-530.
42. Sutherland, H.F., R. Wadey, J.M. McKie, C. Taylor, U. Atif, K.A. Johnstone, S. Halford, U.-J. Kim, J. Goodship, A. Baldini, and P.J. Scambler. 1996. Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome. Am. J. Hum. Genet. 59: 23-31.
43. Wadey, R., S. Daw, C. Taylor, U. Atif, S. Kamath, S. Halford, H. O'Donnell, D. Wilson, J. Goodship, J. Burn, and P. Scambler. 1995. Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome. Hum. Mol. Genet. 4: 551-558.