Cop?sigIit Q Miinksguurtl I Y97 CLINICAL GENETICS
Clin Genet 1997: 51: 288-289 Prinfeil in UK - ull righ1.v rrserwd
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Short Report on DNA Marker at Candidate Locus and three polymorphic bands at 10 kb, 8.0 kb, and 2.0 kb (Fig. 1). The 8.0 and 2.0 kb bands cosegregated.
Detection of an EcoRl restriction f ragment Ie ngt h polymorphism in the gene encoding the human TBP associated factor I I 30 (TAFII 301 Valerie Chehensse', Caroline Boulvin', Sandrine Luce', Lazlo Tora2, Claudine Junien' and Isabelle Henry' 'I NSERM U383, HBpital Necker-Enfants Malades, Universitb Rene Descartes, Paris, and 'lnstitut de Genetique et de Biologie Moleculaire et Cellulaire, Illkirch, C.U. de Strasbourg, France
I. Henry, U383 INSERM, HBpital Necker-Enfants Malades, 149 rue de Sevres, 75015 Paris, France. Tel: 33 (01) 44 49 44 85. Fax: 33 (011 47 83 32 06. e-mail:
[email protected]
Frequency: After determination of the enzyme detecting the polymorphism, Mendelian segregation was performed on eight independent families, representing a total of 34 individuals. Frequencies deduced from this study are 0.25 and 0.75 for alleles 10 kb and 8.0/2.0 kb, respectively, resulting in a PIC value of 0.3. This PIC is relatively low as it represents a biallelic EcoRI polymorphism. Chromosomal location: TAF2H was previously mapped by in situ hybridization on the distal part of the short arm of chromosome 11, to region 1 lpter to 1 lp15.2 (Scheer et al. 1995). We specified its localization to 1 lp15.3 (Chehensse et al. 1996). Other comments: As we localized TAF2H to between 51.10 and Jl.1 hybrid breakpoints, it is interesting to note that this region of approximately 500 kb encompasses a WBS breakpoint, B05 (van
Received 16 October 1996, accepted for publication 14 Januarv 1997
Name of the gene: Human TATA binding protein Associated Factor gene or human TAFl,30 gene (TAF2H). Candidate for: Wiedemann-Beckwith syndrome (WBS) and associated tumours (Beckwith 1969, Junien & Henry 1994, Wiedemann 1964). Source and description of DNA probe: Genomic clones coding for hTAF,,30 were identified from a human genomic library with hTAF,,30 cDNA probe (Scheer et al. 1995). In this report we used a 6 kb genomic BamHI fragment subcloned in pBSK and containing the entire TAF2H gene.
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Clone availability: Contact L. Tora. Technical comments: To investigate for DNA polymorphism in the TAFZH gene we analysed 47 unrelated individuals and digested their extracted DNA with different enzymes. The RFLP was detected by Southern blotting experiments after EcoRI digestion of 10 pg DNA and hybridization with the 32P labelled probe for 16-20 h at 65°C. Following hybridization, filters were washed to a final stringency of 0.5 x SSC/O.l%SDS. Description of thepolymorphism: The probe detected three constant bands at 11.0 kb, 6.8 kb and 5.4 kb
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Fig. 1. EcoRI biallelic polymorphism detected in the TAFZH gene. Numbers on the top describe the genotypes of different human DNA tested. Allele I corresponds to 10 kb band and allele 2 to 8.0/2.0 kb bands. Fragments of 11.0, 6.8, and 5.4 kb are constant bands.
Short report Heyningen & Little 1995), and corresponds to the large WBS region (Redeker et al. 1994). To look for a possible rearrangement of this gene in the WBS, we hybridized the hTAFI130probe on DNA from 46 unrelated WBS patients digested with enzymes EcoRI, BamHI and HpaII. No abnormal band was observed on the tested patients (data not shown), showing that this gene is not commonly rearranged in WBS. Since this region of chromosome 11 is also often involved in sporadic cases of tumours, it might be of interest to look for a possible involvement of this gene at the somatic level. A rearrangement of TAF2H could lead to an abnormal TFIID multi-subunit complex, thus resulting in a failure of RNA Pol 11 function (Jacq et al. 1994). Acknowledgements: This work was supported by: INSERM, CNRS, Assistance Publique-HBpitaux de Pans, Ligue Nationale Contre le Cancer/Fediration Nationale des Centres de Lutte contre le Cancer. Association pour la Recherche contre le Cancer, Association Frangaise contre les Myopathies, Universite Pans 5, Programme HBspitalier de Recherche Clinique, Mutuelle GenCrale de I'Education Nationale and the European Community (Contract ERBSCl TT000469).
RrJ>rrnces: Beckwith JB. Macroglossia, omphalocele, adrenal cytomegaly, gigantism. and hyperplastic visceromegaly. Birth Defects 1969: 5: 188-190. Chehensse V. Boulvin C, Luce S, Tora L, Junien C, Henry I. Assignment of the human TAF,,30 gene (TAF2H) to human chromosome band 1 lp15.3 with somatic cell hybrids. Cytogenet Cell Genet 1997: in press. Jacq X, Brou C, Lutz Y , Davidson I, Chambon P, Tora L. Human TAF,,30 is present in a distinct TFIID complex and is required for transcriptional activation by oestrogen receptor. Cell 1994: 79: 107-117. Junien C, Henry I. Genetics of Wilms' tumor: a blend of aberrant development and genomic imprinting. Kidney Int 1994: 46: 1264-1279. Redeker E, Hoovers JM, Alders M, van Moorsel CJ, Ivens AC, Gregory S, Kalikin L, Bliek J, de Galan L, van den Bogaard R, et al. An integrated physical map of 210 markers assigned to the short arm of human chromosome 11. Genomics 1994: 21: 538-550. Scheer E, Mattei MG. Jacq X, Chambon P, Tora L. Organization and chromosomal localization of the gene (TAF2H) encoding the human TBP-associated factor I1 30 ( TAF,130). Genomics 1995: 29: 269-272. van Heyningen V, Little P. Report of the Fourth International Workshop on Human Chromosome 11 Mapping 1994. Cytogenet Cell Genet 1995: 69: 128-158. Wiedemann HR. Complexe malformatif familial avec hernie ornbilicale et macroglossie - un syndrome nouveau? J Genet Hum 1964: 13: 232-233.
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