TY - JOUR
T1 - A mouse single-copy gene, Gtf2i, the homolog of human GTF2I, that is duplicated in the Williams-Beuren syndrome deletion region
AU - Wang, Yu Ker
AU - Pérez-Jurado, Luis A.
AU - Francke, Uta
N1 - Funding Information:
The authors are grateful to Jeff Twiss for the rat tissues; Staci Nugent for the mouse genomic blots; Diana M. Bautista for the ES cell RNA; Kim Comeau, Chiping Qian, and Josh Cisco for excellent technical assistance; Risa Peoples for comments on the manuscript; and Mary Barter for ®gure preparation. This work was supported by NIH Grant R01 HG00298 (U.F.) and by the Howard Hughes Medical Institute of which U.F. is an investigator and Y.-K.W. is an associate.
PY - 1998/3/1
Y1 - 1998/3/1
N2 - We have cloned and characterized Gtf2i, the mouse homolog of human GTF2I (general transcription factor II-I), which encodes BAP-135, a target for Bruton's tyrosine kinase GTF2I represents the telomeric and functional copy of a duplicated gene flanking the 2-Mb Williams-Beuren syndrome (WBS) common deletion at 7q11.23. GTF2I is deleted in WBS, while a truncated centromeric pseudogene (GTF2IP1) is not deleted. In mouse, there appears to be only a single locus, Gtf2i, which we mapped to chromosome 5 in a region of conserved mouse-human synteny. Gtf2i is 87.7% identical to GTF2I at the nucleotide and 97% at the amino acid level and generates several alternatively spliced transcripts. The gene is widely expressed in adult tissues and in all areas of the brain. Gtf2i transcript is detectable in ES cells by RT-PCR and on Northern blots of tissues from 7-dpc embryos. A ubiquitous expression pattern is seen by Northern and tissue in situ hybridization studies of 14-dpc embryos.
AB - We have cloned and characterized Gtf2i, the mouse homolog of human GTF2I (general transcription factor II-I), which encodes BAP-135, a target for Bruton's tyrosine kinase GTF2I represents the telomeric and functional copy of a duplicated gene flanking the 2-Mb Williams-Beuren syndrome (WBS) common deletion at 7q11.23. GTF2I is deleted in WBS, while a truncated centromeric pseudogene (GTF2IP1) is not deleted. In mouse, there appears to be only a single locus, Gtf2i, which we mapped to chromosome 5 in a region of conserved mouse-human synteny. Gtf2i is 87.7% identical to GTF2I at the nucleotide and 97% at the amino acid level and generates several alternatively spliced transcripts. The gene is widely expressed in adult tissues and in all areas of the brain. Gtf2i transcript is detectable in ES cells by RT-PCR and on Northern blots of tissues from 7-dpc embryos. A ubiquitous expression pattern is seen by Northern and tissue in situ hybridization studies of 14-dpc embryos.
UR - http://www.scopus.com/inward/record.url?scp=0032033164&partnerID=8YFLogxK
U2 - 10.1006/geno.1997.5182
DO - 10.1006/geno.1997.5182
M3 - Article
C2 - 9521869
AN - SCOPUS:0032033164
VL - 48
SP - 163
EP - 170
JO - Genomics
JF - Genomics
SN - 0888-7543
IS - 2
ER -