ABSTRACT
We have identified a novel zinc finger gene, ZNF232, mapped to human chromosome 17p12. The coding region of the gene is organized in three exons corresponding to a 417 amino acid long polypeptide containing a SCAN/LeR domain and five C(2)H(2)-type zinc fingers. ZNF232 is possibly a nuclear protein, as suggested by expression analysis of GFP/ZNF232 chimeric constructs. ZNF232 transcripts were detected in a wide collection of adult human tissues. The gene is possibly subjected to tissue-specific post-transcriptional regulation by means of alternative splicing.
Subject(s)
Genes , Nuclear Proteins/genetics , Zinc Fingers , Amino Acid Sequence , Base Sequence , Chromosome Mapping , DNA, Complementary/chemistry , Exons , Gene Library , Green Fluorescent Proteins , Humans , In Situ Hybridization , Introns , Luminescent Proteins , Male , Molecular Sequence Data , Tumor Cells, CulturedSubject(s)
Carrier Proteins/genetics , Chromosomes, Human, Pair 16/genetics , DNA-Binding Proteins , Heat-Shock Proteins , Proteins/genetics , Pseudogenes , Amino Acid Sequence , Base Sequence , CCAAT-Enhancer-Binding Proteins , Chromosome Banding , Chromosome Mapping , Chromosomes, Artificial, Yeast/genetics , DNA Primers/genetics , DNA, Complementary/genetics , Humans , Hybrid Cells , In Situ Hybridization, Fluorescence , Introns , Molecular Sequence Data , Sequence Homology, Nucleic AcidABSTRACT
Human hepatocyte nuclear factor 4 (hHNF-4) is a member of the nuclear hormone receptor superfamily and an important transcription factor and developmental regulator of liver-specific genes. Distinct hHNF-4 cDNAs corresponding to various HNF-4 isoforms have been recently characterised. Three cDNAs, hHNF-4A, B and C, are considered splice variants of a single hHNF-4 gene. We have mapped hHNF-4 to 20q12-q13.1 between PLCG1 and D20S17 by genetic linkage analysis, taking advantage of an adjacent PstI restriction fragment length polymorphism, (RFLP), and by fluorescence in situ hybridisation. hHFN-4 maps to chromosome 20 in a region syntenic with mouse chromosome 2 where the hnf-4 homologue has been assigned.
Subject(s)
Chromosome Mapping , Chromosomes, Human, Pair 20 , DNA-Binding Proteins , Phosphoproteins/genetics , Transcription Factors/genetics , Basic Helix-Loop-Helix Leucine Zipper Transcription Factors , Genetic Linkage , Genetic Markers , Hepatocyte Nuclear Factor 4 , Humans , In Situ Hybridization, Fluorescence , Isoenzymes/genetics , Phospholipase C gamma , Polymerase Chain Reaction , Polymorphism, Restriction Fragment Length , Type C Phospholipases/geneticsABSTRACT
Well-characterized, chromosome-specific somatic cell hybrid panels are powerful tools for the analysis of the human genome. We have characterized a panel of human x hamster somatic cell hybrids retaining fragments of human chromosome 10 by fluorescence in situ hybridization and associated them to genetic markers. Most of the hybrids were generated by the radiation-reduction method, starting from a chromosome 10-specific monochromosomal hybrid, whereas some were collected from hybrids retaining chromosome 10-specific fragments as a result of spontaneous in vitro rearrangements. PCR was used to score the retention of 57 microsatellite markers evenly distributed along a well-supported framework genetic map containing 149 loci uniquely placed at 69 anchor points (odds exceeding 1,000:1), with an average spacing of 2.8 cM. As an additional resource for genomic studies involving human chromosome 10, we report the cytogenetic localization of a series of YAC and PAC clones recognized by at least one genetic marker. Somatic cell hybrids provide a powerful source of partial chromosome paints useful for detailed clinical cytogenetic and primate chromosome evolution investigations. Furthermore, correlation of the above physical, genetic, and cytogenetic data contribute to an emerging consensus map of human chromosome 10.
Subject(s)
Chromosomes, Human, Pair 10 , Hybrid Cells , Animals , Chromosome Mapping , Cloning, Molecular , Cricetinae , Female , Humans , In Situ Hybridization, Fluorescence , Male , Microsatellite RepeatsABSTRACT
Hepatocyte nuclear factor 4 (HNF-4) is an essential positive regulator of a large number of liver-specific genes. We report here the isolation of three HNF-4 isoforms from a human liver cDNA library. hHNF-4A and hHNF-4B, differing by the insertion of 10 amino acids in the C-terminal region, have been previously identified in mouse, rat and human liver. The novel isoform, hHNF-4C, is identical to hHNF-4A and B in the regions encompassing the DNA-binding and dimerization domains, but contains a different C-terminal domain. Similar to the other isoforms, hHNF-4C is produced in a limited number of tissues and represents 2.6-13% of the total hHNF-4 mRNA population, depending on the cell type. The chromosomal origin of all three isoforms has been localized to human chromosome 20. hHNF-4C can form heterodimers with hHNF-4A and B in vitro, and exhibits similar transactivation potential as hHNF-4A or B in transient transfection assays, suggesting that the divergent C-terminal region is not part of the transactivation domain.
Subject(s)
Liver/metabolism , Phosphoproteins/isolation & purification , Transcription Factors/isolation & purification , Amino Acid Sequence , Animals , Basic Helix-Loop-Helix Leucine Zipper Transcription Factors , Cell Line , Chromosome Mapping , Chromosomes, Human, Pair 20 , DNA/metabolism , DNA-Binding Proteins/metabolism , Gene Expression , Hepatocyte Nuclear Factor 4 , Humans , Molecular Conformation , Molecular Sequence Data , Phosphoproteins/chemistry , Phosphoproteins/genetics , Phosphoproteins/metabolism , Protein Binding , Rats , Sequence Homology, Amino Acid , Tissue Distribution , Transcription Factors/chemistry , Transcription Factors/genetics , Transcription Factors/metabolism , Transcriptional ActivationABSTRACT
A highly polymorphic tetra-/di-nucleotide repeat sequence was identified upstream of the human alpha 2/alpha 1-globin gene pair on chromosome 16p13.3. This microsatellite marker should be useful in alpha-thalassemia genotype-phenotype correlations and in respective population genetics studies.
