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Although most retroposons that arose by reverse transcription of cellular mRNAs and by reintegration into the genome are nonfunctional, several examples exist in which the retroposon acquired a novel function and became fixed in the genome as a functional gene. We identified another such case: the ubiquitously expressed X-linked XAP-5 gene with unknown function gave rise to its retroposed counterpart,...
The β-globin locus control region (LCR) is a cis regulatory element that is located in the 5′ part of the locus and confers high-level erythroid lineage-specific and position-independent expression of the globin genes. The LCR is composed of five DNase I hypersensitive sites (HSs), four of which are formed in erythroid cells. The function of the 5′-most site, HS5, remains unknown. To gain insights...
The domestic dog is increasingly being recognized as a useful model for human disease. The aim of this study was to conduct the first detailed whole-genome comparison of human and dog using bidirectional heterologous chromosome painting (reciprocal Zoo-FISH) analysis. We used whole-chromosome paint probes produced from degenerate oligonucleotide-primed PCR amplification of high-resolution bivariate...
Mice homozygous for the transgenic insertion in line OVE250 exhibit severe progressive glomerulonephritis. Ultrastructural changes in the glomerular basement membrane (GBM) at 2 weeks of age resemble those in Alport syndrome. The transgenic insertion site was mapped by FISH to mouse chromosome 1 close to Pax3. Genetic and molecular analyses identified a deletion of genomic DNA at the transgene insertion...
Gas7, a growth arrest-specific gene first isolated from serum-starved NIH3T3 cells, is expressed abundantly in the brain and is essential for the outgrowth of neurites from cultured cerebellar neurons. Here, we report the existence of a Gas7-related cDNA, designated Gas7-cb, isolated from the mouse cerebellum, and we report the finding that Gas7-cb transcripts and protein are expressed at different...
RECQL4 is the fourth gene identified as a member of the human DNA helicase RecQ gene family including the genes for Werner syndrome (WRN) and Bloom syndrome, both of which are characterized by genomic instability. Recently, RECQL4 was identified as the gene responsible for some cases of Rothmund–Thomson syndrome (RTS), a rare autosomal recessive genetic disorder that shows chromosomal instability,...
Indolethylamine N-methyltransferase (INMT) catalyzes the N-methylation of tryptamine and structurally related compounds. We recently cloned and characterized the rabbit INMT cDNA and gene as a step toward cloning the cDNA and gene for this enzyme in humans. We have now used a PCR-based approach to clone a human INMT cDNA that had a 792-bp open reading frame that encoded a 263-amino-acid protein 88%...
The PR domain, first noted as the PRDI-BF1 (HGMW-approved symbol PRDM1) and RIZ (HGMW-approved symbol PRDM2) homologous region, defines a small family of transcription factors involved in cell differentiation and tumorigenesis. The shared role of this family in human cancer raises considerable interest in identifying novel members of this family as candidate cancer genes. This paper describes a new...
Transforming growth factor-α (TGFA) has been proposed as a candidate gene in the etiology of nonsyndromic cleft lip with or without cleft palate (NS-CL/P) and of nonsyndromic cleft palate only (NS-CPO). Biologic support for a role of TGFA arises from its presence at high levels in the epithelial tissue of the medial edge of the palatal shelves at the time of shelf fusion in mice. Genetic support for...
Genome-wide scans have suggested that a locus on 7q is involved in the etiology of autistic disorder (AD). We have identified an AD family in which three sibs inherited from their mother a paracentric inversion in the chromosome 7 candidate region (inv(7)(q22–q31.2)). Clinically, the two male sibs have AD, while the female sib has expressive language disorder. The mother carries the inversion, but...
P35srj is a ubiquitously expressed nuclear protein that binds the transcriptional coactivators p300 and CREB-binding protein (CBP). It is an alternatively spliced isoform of Mrg1, a cytokine-inducible factor that has transformation activity. P35srj interferes with the recruitment of p300/CBP by the transcription factor HIF-1α, a process that is essential for the transcriptional response to hypoxia...
The Ikaros gene (symbol ZNFN1A1) encodes the hematopoietic zinc finger DNA binding protein, which is now recognized as a central regulator of lymphoid differentiation and has been implicated in leukemogenesis. Recently, an Ikaros-related zinc finger protein, called Aiolos (ZNFN1A3), has been identified and characterized, thus establishing the presence of a gene family whose members may be hematopoietic...
Seven members of the human 3β-hydroxysteroid dehydrogenase (3β-HSD) gene family (HGMW-approved symbols HSD3BP1–HSD3BP5) have been cloned and physically mapped. HSD3B1 and 2 express 3β-HSD enzymes; HSD3Bψ1–5 are unprocessed pseudogenes that are closely related to HSD3B1 and 2 but contain no corresponding open reading frames. mRNA is expressed from ψ4 and ψ5 in several tissues, but with altered splice...
The gene responsible for the human genetic neurodegenerative disorder DFN-1/MTS encodes a small protein known as deafness/dystonia peptide (DDP). It bears a strong resemblance to a recently characterized set of zinc-binding yeast proteins (Tim8p, Tim9p, Tim10p, Tim12p, and Tim13p) that are implicated in the import of a class of transmembrane carrier proteins from the cytoplasm to the mitochondrial...
A novel cDNA encoding a putative Ser/Thr protein kinase was isolated from a human skeletal muscle cDNA library. It contains an open reading frame that extends from nt 104 to 1510 and codes for a protein of 469 amino acids. A catalytic domain containing the conserved residues of the Ser/Thr protein kinase, especially human ribosome protein S6 kinase (RSK), was found to be located in the C-terminal...
Mutations in myosin XV are responsible for congenital profound deafness DFNB3 in humans and deafness and vestibular defects in shaker 2 mice. By combining direct cDNA analyses with a comparison of 95.2 kb of genomic DNA sequence from human chromosome 17p11.2 and 88.4 kb from the homologous region on mouse chromosome 11, we have determined the genomic and mRNA structures of the human (MYO15) and mouse...
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