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Seminal vesicle proteins (SVPs) are made by male rodents, and form the copulatory plug following mating. Here we report a partial nucleotide sequence of a mouse clone homologous to rat SVP F. Unexpectedly, we found that SVP F-related transcripts are expressed at high levels in mouse skeletal muscle. We mapped mouse SVP F to mouse chromosome 15 using somatic cell hybrid lines.
Olfactory receptor genes constitute the largest family of G protein-coupled receptors. We have previously shown that members of this family are expressed during spermatogenesis, and that the corresponding proteins are displayed on mature sperm cells. In each mammalian species, a restricted subset of olfactory receptors is expressed in male germ cells and displays a pattern of expression suggestive of their potential implication in the control of sperm physiology. In addition to the cDNA fragments available previously, we now report the molecular cloning of two olfactory receptor cDNAs from a human testis library. Five olfactory receptor genes expressed in germ cells were localized in the human genome by radiation hybrid mapping. Three of the genes map to the short arm of chromosome 19 (19p13.1-19p31.3), one to chromosome 11 (11q22.1-22.3), and one to chromosome 17 (17q21-22). The former two localizations fall within clusters previously identified for members of the putative olfactory receptor gene family expressed in olfactory mucosa. Similarly, sequence analysis has revealed that these testicular genes share no distinctive structural features from the other, non-testicular, members of the family. The expression of a subset of olfactory receptor genes in the male germ line is therefore not correlated to their belonging to a specific structural subgroup, or to a specific gene cluster or chromosomal segment.
A neural-specific activating subunit, p35, of cyclin-dependent kinase 5 (Cdk5) was recently reported to differ from other mammalian cyclins, suggesting a new type of regulatory subunit for Cdk activity. The mouse gene encoding p35, Cdk5r, was isolated from a mouse 129/SvJ genomic library, and the genomic structure of Cdk5r was characterized. The most notable features of Cdk5r are the absence of introns in the amino acid coding region and the high homology of amino acid sequence among species. The 5'-flanking region of Cdk5r contained no canonical TATA or CAAT box but had several putative promoter elements, including Sp1, AP2, MRE, and NGFIA. The mouse Cdk5r transcript was detected only in the brain by Northern blot analysis. Mouse Cdk5r was mapped to a position on mouse chromosome 11.
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Drebrin A, a major neuronal actin-binding protein, regulates the dendritic spine shapes of neurons. Here, we have cloned and characterized a novel mouse cDNA clone encoding a truncated form of drebrin A, named s-drebrin A. Analysis of the genomic organization of the mouse drebrin gene (Dbn1), which mapped to the central portion of chromosome 13, revealed that isoforms including s-drebrin A are generated by alternative splicing from a single drebrin gene. The s-drebrin A mRNA was expressed in the brain, but not in non-neuronal tissues. The s-drebrin A expression was barely detected in the embryonic brain, but was upregulated during postnatal development of the brain. Overexpression of GFP-tagged s-drebrin A in fibroblasts showed it to be associated with actin filaments and with changes in actin cytoskeleton organization. These findings suggest that s-drebrin A has a role in spine morphogenesis, possibly by competing the actin-binding activity with drebrin A.
Sulphamidase is an exoglycosidase involved in the degradation of heparan sulfate. Lack of sulphamidase activity leads to the lysosomal storage disorder Mucopolysaccharidosis type IIIA (Sanfilippo type A OMIM No. 252900). At present there are no naturally occurring small animal models of this disease that could be of fundamental importance to study the pathophysiology of the disease and to try therapeutic strategies. Cloning of the mouse gene is an important step to create a mouse model for this common mucopolysaccharidosis. We have isolated and sequenced the gene encoding mouse sulphamidase. Comparison of the deduced amino acid sequences of human and mouse sulphamidase showed 88% identity and 93% similarity. The exon-intron structure of the gene has been determined with the mouse 10-kb gene divided in 8 exons. The mouse sulphamidase gene (Sgsh) was mapped to the distal end of Chromosome (Chr) 11, in a region that is homologous with a segment of human Chr 17 containing the orthologous human gene.
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Siamese cats are homozygous for the recessive cs allele of the color (albino) locus. The c locus is shown here by backcross analysis to be linked to the beta-hemoglobin (HBB) locus in the cat at a distance of approximately eight centiMorgans. The HBB locus and, by inference, the c locus were assigned to feline chromosome D1, by analysis of genomic DNAs from a panel of rodent X cat somatic cell hybrids with a molecular clone of the human beta-globin locus. Evolutionary conservation of the synthetic homology of feline chromosome D1 and human chromosome 11 is extensive. Comparison of high resolution G-trypsin-banded preparations of the two chromosomes permitted cytological alignment of the long arm of the conserved chromosomes providing that a minimum of one paracentric inversion is hypothesized. The placement of the albino locus on conserved syntenic groups of several markers (HBB, HRAS, LDHA) in both cat and mouse strongly indicates the conservative placement of the as yet unmapped human albino locus in the homologous syntenic group on human chromosome 11p.
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The murine homologs of two viral oncogenes associated with tyrosine-specific kinase activity have been assigned to different loci in the mouse genome. The segregation of restriction site polymorphisms, as detected by probes that are specific for endogenous c-fes and c-src sequences, was followed in the DNA of recombinant inbred strains. The c-fes gene was mapped to the proximal portion of chromosome 7, very close to the Gpi-1 locus, whereas c-src was linked to the Psp locus on the distal half of chromosome 2.
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Concordant segregation of human brain-type creatine kinase, CK(BB), expression with nucleoside phosphorylase (NP) expression and the presence of chromosome 14 was observed in 53 independently derived cell hybrids between CK(BB)-positive human cells and CK(BB)-negative rodent cells. Further analysis of 26 subclones of two CK(BB)-positive human-mouse cell hybrids confirmed the positive correlation of CK(BB) expression with NP expression. The results suggest that the gene coding for human CK(BB) can be assigned to chromosome 14.
We have isolated the complete cDNA sequence encoding the human homolog of the yeast replication protein Cdc46/Mcm5. The cDNA was used as a probe for chromosomal fluorescence in situ hybridization (FISH), which localized the human Cdc46 gene (CDC46) to chromosome region 22q13.1-->q13.2. This is the fourth human Mcm gene whose chromosome region has been determined, and it is now apparent that human Mcm genes are widely distributed in the genome. As deduced from the cDNA sequence, human protein hCdc46 is composed of 734 amino acids and contains a central region that is almost 80% identical with the yeast protein. Immunoprecipitation experiments with hCdc46-specific antibodies confirm that essentially all nuclear hCdc46 proteins form a stable dimeric complex with protein P1Mcm3.
Full exon-intron structures are presented for the NIK serine/threonine protein kinase gene and a novel gene termed C17orf1. By in situ hybridisation and radiation hybrid mapping, a cosmid (cDD-Z) that contains regions of both of these genes has been localised between markers D17S800 and D17S791 at chromosome 17q21. The two genes are thus positional candidates for the mutant locus underlying frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), a disease for which NIK is also a good biological candidate. Using exon-intron maps, a genomic DNA sequencing based mutation screen has been performed for the NIK and C17orf1 genes in a chromosome 17-linked FTDP-17 pedigree. Two silent single-base variations were detected in C17orf1. No alterations were restricted to DNA samples from patients, thus excluding the C17orf1 and NIK genes as likely sites of mutation FTDP-17.
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