Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22

Genomics

Volumn 51, Issue 2, 1998, Pages 251-261

  Van Den Veyver, Ignatia B ^a   Cormier, Trena A ^a   Jurecic, Vesna ^a   Baldini, Antonio ^a   Zoghbi, Huda Y ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AICARDI SYNDROME; ANIMAL CELL; ANIMAL EXPERIMENT; ARTICLE; CHROMOSOME REARRANGEMENT; CORPUS CALLOSUM; DNA LIBRARY; EXON; GENE DELETION; GENE MAPPING; GOLTZ SYNDROME; HUMAN; HUMAN CELL; INTRON; MICROPHTHALMIA; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SKIN DEFECT; TELOMERE; X CHROMOSOME;

ANIMALIA; RODENTIA;

EID: 0032527775     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1998.5350     Document Type: Article

References (37)

1. Albertsen H., Abderrahim H., Cann H., Dausset J., LePaslier K., Cohen D. Construction and characterization of a yeast artificial chromosome library containing seven haploid human genome equivalents. Proc. Natl. Acad. Sci. USA. 87:1990;4256-4260.
2. Baldini A., Lindsay E. A. Mapping human YAC clones by fluorescence in situ hybridization using Alu-PCR from single yeast colonies. Methods in Molecular Biology:In Situ. 1994;Humana, Clifton. p. 75-85.
3. Ballabio A., Andria G. Deletions and translocations involving the distal short arm of the X chromosome: Review and hypotheses. Hum. Mol. Genet. 1:1992;221-227.
4. Ballabio A., Parenti G., Carrozzo R., Sebastio G., Andria G., Buckle V., Fraser N., Craig I., Rocchi M., Romeo G., Jobsis A. C., Persico M. G. Isolation and characterization of a steroid sulfatase cDNA clone: Genomic deletions in patients with X-chromosome-linked ichthyosis. Proc. Natl. Acad. Sci. USA. 84:1987;4519-4523.
5. Bassi M. T., Schiaffino M. V., Renieri A., De Nigris F., Galli L., Bruttini M., Bergen A. A. B., Lewis R. A., Ballabio A. Cloning of the gene for ocular albinism type 1 form the distal short arm of the X chromosome. Nat. Genet. 10:1995;13-19.
6. Bergen A. A. B., ten Brink J., Schuurman E. J. M., Bleeker-Wagemakers E. M. Nance-Horan syndrome: Linkage analysis in a family from the Netherlands. Genomics. 21:1994;238-240.
7. Bernard L. E., Chitayat D., Weksberg R., Van Allen M. I., Langlois S. Linkage analysis of two Canadian families segregating for X linked spondyloepiphyseal dysplasia. J. Med. Genet. 33:1996;432-434.
8. Clark D., Henikoff S. Ordered deletions using exonuclease III. Methods Mol. Biol. 57:1996;139-147.
9. Donnenfeld A. E., Packer R. J., Zackai E. H., Chee C. M., Sellinger B., Emanuel B. S. Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome. Am. J. Med. Genet. 32:1989;461-467.
10. Ellis N. A., Tippet P., Petty A., Reid M., Weller P. A., Ye T. Z., German J., Goodfellow P. N., Thomas S., Banting G. PBDX is the XG blood group gene. Nat. Genet. 8:1994;285-290.
11. Ellisson K. A., Fill C. P., Terwilliger J., Degennaro L. J., Martin-Gallardo A., Anvret M., Percy A. K., Ott J., Zoghbi H. Y. Examination of X chromosome markers in Rett syndrome: Exclusion mapping with a novel variation on multilocus linkage analysis. Am. J. Hum. Genet. 50:1992;278-287.
12. Eng A., Lebel R. R., Elejalde B. R., Anderson C., Bennett L. Linear facial skin defects associated with microphthalmia and other malformations, with chromosome deletion Xp22.1. J. Am. Acad. Dermatol. 31:1994;680-682.
13. Feather S. A., Woolf A. S., Donnai D., Malcolm S., Winter R. M. The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3. Hum. Mol. Genet. 6:1997;1163-1167.
14. Feldman G. J., Ward D. E., Lajeunie-Renier E., Saavedra D., Robin N. H., Proud V., Robb L. J., Der Kaloustian V., Carey J. C., Cohen M. M., Cormier V., Munnich A., Zackai E. H., Wilkie A. O. M., Price R. A., Muenke M. A novel phenotypic pattern in X-linked inheritance: Craniofrontonasal syndrome maps to Xp22. Hum. Mol. Genet. 6:1997;1937-1941.
15. Franco B., Guioli S., Pragliola A., Incerti B., Bardoni B., Tonlorenzi R., Carrozzo R., Maestrini E., Pieretti M., Taillon-Miller P., Brown C. J., Willard H. F., Lawrence C., Persico M. G., Camerino G., Ballabio A. A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal-path finding molecules. Nature. 353:1991;529-536.
16. Franco B., Meroni G., Parenti G., Levilliers J., Bernard L., Gebbia M., Cox L., Maroteaux P., Sheffield P., Rappold G. A., Andria G., Petit C. A cluster of sulfatase genes on Xp22.3: Mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. Cell. 81:1995;15-25.
17. Freemont P. S., Hansen I. M., Trowsdale J. A novel cysteine rich sequence motif. Cell. 64:1991;483-484.
18. Goltz R. W. Focal dermal hypoplasia syndrome: An update. Arch. Dermatol. 128:1992;1108-1111.
19. Johnston K., Schonberg S., Littman V., Gregory T., Gelbart S. J. O., Cox D. R. De novo X:Y translocation associated with imperforate anus and retinal pigmentary abnormalities. Am. J. Med. Genet. 27:1987;603-611.
20. Kwiatkowsky T. J. Jr., Zoghbi H. Y., Ledbetter S. A., Ellison K. A., Chinault A. C. Rapid identification of yeast artificial chromosome clones by matrix pooling and crude lysate PCR. Nucleic Acids Res. 18:1990;7191-7192.
21. Lagerstrom M., Dahl N., Nakahori Y., Nakagome Y., Backman B., Landegren U., Peterson U. A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIHI). Genomics. 10:1991;971-975.
22. Larin Z., Monaco A. P., Lehrach H. Yeast artificial chromosome libraries containing large inserts from mouse and human DNA. Proc. Natl. Acad. Sci. USA. 88:1991;4123-4127.
23. Lindsay E. A., Grillo A., Ferrero G. B., Roth E. J., Magenis E., Grompe M., Hulten M., Gould C., Baldini A., Zoghbi H. Y., Ballabio A. Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization. Am. J. Med. Genet. 49:1994;229-234.
24. Naritomi K., Izumikawa Y., Nagataki S., Fukushima Y., Yakui K., Hirayama K. Combined phenotypes of the Goltz and Aicardi syndromes in a terminal Xp deletion: Are they a contiguous gene syndrome. Am. J. Med. Genet. 43:1992;839-843.
25. Neidich J. A., Nussbaum R. L., Packer R. J., Emanuel B. S., Puck J. M. Heterogeneity of clinical severity and molecular lesions in Aicardi syndrome. J. Pediatr. 116:1990;911-917.
26. Palmer S., Perry J., Kipling D., Ashworth A. A gene spans the pseudoautosomal boundary in mice. Proc. Natl. Acad. Sci. USA. 94:1997;12030-12035.
27. Quaderi N. A., Schweiger S., Gaudenz K., Franco B., Rugarli E. I., Berger W., Feldman G. J., Volta M., Andolfi G., Gilgenkrantz S., Marion R. W., Hennekam R. C. M., Opitz J. M., Muenke M., Ropers H. H., Ballabio A. A defect of midline development, Opitz syndrome, is due to mutations in a novel RING finger gene on Xp22. Nat. Genet. 17:1997;285-291.
28. Ramirez-Solis R., Liu P., Bradley A. Chromosome engineering in mice. Nature. 378:1995;720-724.
29. Robin N. H., Feldman G. J., Aronson A. L., Mitchell H. F., Weksberg R., Leonard C. O., Burton B. K., Josephson K. D., Laxova R., Aleck K. A., Allanson J. E., Guion-Almeida M. L., Martin R. A., Leichtman L. G., Price R. A., Opitz J. M., Muenke M. Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2. Nat. Genet. 11:1995;459-461.
30. Sambrook J., Fritsch E. F., Maniatis T. Molecular Cloning: A Laboratory Manual. 1989;Cold Spring Harbor Laboratory Press, Cold Spring Harbor.
31. Schaefer L., Ferrero G. B., Grillo A., Bassi M. T., Roth E. J., Wapenaar M. C., van Ommen G. J., Mohandas T. K., Rocchi M., Zoghbi H. Y., Ballabio A. A high resolution deletion map of the Xp22 region. Nat. Genet. 4:1993;272-279.
32. Schaefer L., Ballabio A., Zoghbi H. Y. Cloning and characterization of a putative human holocytochrome c-type synthetase gene (HCCS) isolated from the critical region for microphthalmia with linear skin defects (MLS). Genomics. 34:1996;166-172.
33. Schaefer L., Prakash S. K., Zoghbi H. Y. Cloning and characterization of a novel rho-type GTPase activating protein (ARHGAP6) from the critical region for microphthalmia with linear skin defects (MLS). Genomics. 46:1997;268-277.
34. Temple I. K., Hurst J. A., Hign S., Butler L., Baraitser M. De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye abnormalities. J. Med. Genet. 27:1990;556-558.
35. Verloes a., David A., Odent S., Toutain A., Andre M.-J., Lucas J., Le Marec B. Opitz GBBB syndrome: Chromosomal evidence of an X-linked form. Am. J. Med. Genet. 59:1995;123-128.
36. Wapenaar M. C., Bassi M. T., Schaefer L., Grillo A., Ferrero G. B., Chinault A. C., Ballabio A., Zoghbi H. Y. The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): Cloning and characterization of the critical regions. Hum. Mol. Genet. 2:1993;947-952.
37. Wapenaar M. C., Schiaffino M. V., Bassi M. T., Schaefer L., Chinault A. C., Zoghbi H. Y., Ballabio A. A YAC-based binning strategy facilitating the rapid assembly of cosmid contigs: 1.6 Mb of overlapping cosmids spanning the OA1 and MLS loci in Xp22. Hum. Mol. Genet. 3:1994;1155-1160.