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. 1995 Nov;57(5):1080–1085.

Physical mapping of the holoprosencephaly critical region in 18p11.3.

J Overhauser 1, H F Mitchell 1, E H Zackai 1, D B Tick 1, K Rojas 1, M Muenke 1
PMCID: PMC1801375  PMID: 7485158

Abstract

Holoprosencephaly (HPE) is a common developmental defect that results in a spectrum of craniofacial malformations. HPE is genetically heterogeneous, some cases being associated with deletions of the short arm of chromosome 18. In order to map the putative HPE gene located on 18p (HPE4) more precisely, six patients with various cytogenetic 18p deletions and clinical features of HPE have been characterized by using a combination of somatic cell hybrid analysis and FISH. By using a set of 27 chromosome 18p-specific markers, the deletion in each patient was characterized. The HPE minimal critical region on 18p was defined on a molecular level, localizing the HPE4 gene to 18p11.3.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Aughton D. J., AlSaadi A. A., Transue D. J. Single maxillary central incisor in a girl with del(18p) syndrome. J Med Genet. 1991 Aug;28(8):530–532. doi: 10.1136/jmg.28.8.530. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Cohen M. M., Jr Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology. Teratology. 1989 Sep;40(3):211–235. doi: 10.1002/tera.1420400304. [DOI] [PubMed] [Google Scholar]
  3. Cohen M. M., Jr, Sulik K. K. Perspectives on holoprosencephaly: Part II. Central nervous system, craniofacial anatomy, syndrome commentary, diagnostic approach, and experimental studies. J Craniofac Genet Dev Biol. 1992 Oct-Dec;12(4):196–244. [PubMed] [Google Scholar]
  4. Feinberg A. P., Vogelstein B. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem. 1983 Jul 1;132(1):6–13. doi: 10.1016/0003-2697(83)90418-9. [DOI] [PubMed] [Google Scholar]
  5. Francke U. Digitized and differentially shaded human chromosome ideograms for genomic applications. Cytogenet Cell Genet. 1994;65(3):206–218. doi: 10.1159/000133633. [DOI] [PubMed] [Google Scholar]
  6. Gurrieri F., Trask B. J., van den Engh G., Krauss C. M., Schinzel A., Pettenati M. J., Schindler D., Dietz-Band J., Vergnaud G., Scherer S. W. Physical mapping of the holoprosencephaly critical region on chromosome 7q36. Nat Genet. 1993 Mar;3(3):247–251. doi: 10.1038/ng0393-247. [DOI] [PubMed] [Google Scholar]
  7. Hosoya M., Kimura C., Ogi K., Ohkubo S., Miyamoto Y., Kugoh H., Shimizu M., Onda H., Oshimura M., Arimura A. Structure of the human pituitary adenylate cyclase activating polypeptide (PACAP) gene. Biochim Biophys Acta. 1992 Jan 6;1129(2):199–206. doi: 10.1016/0167-4781(92)90488-l. [DOI] [PubMed] [Google Scholar]
  8. Human gene mapping 11. London Conference (1991). Eleventh International Workshop on Human Gene Mapping. London, UK, August 18-22, 1991. Cytogenet Cell Genet. 1991;58(3-4):986–2156. doi: 10.1159/000133716. [DOI] [PubMed] [Google Scholar]
  9. Kaneda S., Nalbantoglu J., Takeishi K., Shimizu K., Gotoh O., Seno T., Ayusawa D. Structural and functional analysis of the human thymidylate synthase gene. J Biol Chem. 1990 Nov 25;265(33):20277–20284. [PubMed] [Google Scholar]
  10. Kline A. D., Rojas K., Mewar R., Moshinsky D., Overhauser J. Somatic cell hybrid deletion map of human chromosome 18. Genomics. 1992 May;13(1):1–6. doi: 10.1016/0888-7543(92)90193-v. [DOI] [PubMed] [Google Scholar]
  11. Kline A. D., White M. E., Wapner R., Rojas K., Biesecker L. G., Kamholz J., Zackai E. H., Muenke M., Scott C. I., Jr, Overhauser J. Molecular analysis of the 18q- syndrome--and correlation with phenotype. Am J Hum Genet. 1993 May;52(5):895–906. [PMC free article] [PubMed] [Google Scholar]
  12. Krassikoff N., Sekhon G. S. Familial agnathia-holoprosencephaly caused by an inherited unbalanced translocation and not autosomal recessive inheritance. Am J Med Genet. 1989 Oct;34(2):255–257. doi: 10.1002/ajmg.1320340227. [DOI] [PubMed] [Google Scholar]
  13. Muenke M., Bone L. J., Mitchell H. F., Hart I., Walton K., Hall-Johnson K., Ippel E. F., Dietz-Band J., Kvaløy K., Fan C. M. Physical mapping of the holoprosencephaly critical region in 21q22.3, exclusion of SIM2 as a candidate gene for holoprosencephaly, and mapping of SIM2 to a region of chromosome 21 important for Down syndrome. Am J Hum Genet. 1995 Nov;57(5):1074–1079. [PMC free article] [PubMed] [Google Scholar]
  14. Muenke M., Gurrieri F., Bay C., Yi D. H., Collins A. L., Johnson V. P., Hennekam R. C., Schaefer G. B., Weik L., Lubinsky M. S. Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity. Proc Natl Acad Sci U S A. 1994 Aug 16;91(17):8102–8106. doi: 10.1073/pnas.91.17.8102. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Münke M. Clinical, cytogenetic, and molecular approaches to the genetic heterogeneity of holoprosencephaly. Am J Med Genet. 1989 Oct;34(2):237–245. doi: 10.1002/ajmg.1320340222. [DOI] [PubMed] [Google Scholar]
  16. Münke M., Page D. C., Brown L. G., Armson B. A., Zackai E. H., Mennuti M. T., Emanuel B. S. Molecular detection of a Yp/18 translocation in a 45,X holoprosencephalic male. Hum Genet. 1988 Nov;80(3):219–223. doi: 10.1007/BF01790089. [DOI] [PubMed] [Google Scholar]
  17. Olsen D., Nagayoshi T., Fazio M., Peltonen J., Jaakkola S., Sanborn D., Sasaki T., Kuivaniemi H., Chu M. L., Deutzmann R. Human laminin: cloning and sequence analysis of cDNAs encoding A, B1 and B2 chains, and expression of the corresponding genes in human skin and cultured cells. Lab Invest. 1989 Jun;60(6):772–782. [PubMed] [Google Scholar]
  18. Sukegawa J., Semba K., Yamanashi Y., Nishizawa M., Miyajima N., Yamamoto T., Toyoshima K. Characterization of cDNA clones for the human c-yes gene. Mol Cell Biol. 1987 Jan;7(1):41–47. doi: 10.1128/mcb.7.1.41. [DOI] [PMC free article] [PubMed] [Google Scholar]
  19. van Kessel A. G., Straub R. E., Silverman G. A., Gerken S., Overhauser J. Report and abstracts of the second international workshop on human chromosome 18 mapping. Doorwerth, the Netherlands, July 19-20, 1993. Cytogenet Cell Genet. 1994;65(3):142–165. [PubMed] [Google Scholar]

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