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At least 163 records · Page 9Linked to original sources
PubMed2006

Chromosomal mapping and phenotypic characterization of hereditary otosclerosis linked to the OTSC4 locus.

OBJECTIVE: To perform chromosomal mapping and clinical analysis of hereditary otosclerosis linked to the fourth locus for otosclerosis (OTSC4) in an Israeli family. DESIGN: Pedigree study. SETTING: A genetics of hearing loss research laboratory, a clinical genetics laboratory, a center for speech and hearing, and an otolaryngology department at a university and medical centers in Israel. SUBJECTS: An Israeli family of which 24 members were ascertained and a pedigree was constructed; 12 members had otosclerosis. INTERVENTIONS: Confirmation of otosclerosis by surgery (3 subjects) and by audiologic evaluation, medical history, and family history (9 subjects), and whole-genome scanning to identify the chromosomal region of the mutant locus. MAIN OUTCOME MEASURES: Chromosomal location of the otosclerosis locus. RESULTS: Linkage to the 16q21-23.2 interval was identified and confirmed with a logarithm of odds (LOD) score of 3.97 at theta = 0. The new locus for otosclerosis was designated OTSC4. The OTSC4 interval of 9 to 10 megabase includes several genes involved in the immune system and bone homeostasis that may be good candidates for genes otosclerosis. CONCLUSION: The elucidation of the OTSC4 gene may disclose the etiology of the disorder, and the functional and structural analysis of the protein may open new options for diagnosis, treatment, and prevention of otosclerosis.

Adult↗
PubMed1994

Structure and chromosomal mapping of genes for the mouse kappa-opioid receptor and an opioid receptor homologue (MOR-C).

Recent cDNA cloning studies have defined four members of the opioid receptor family, i.e., delta-, mu- and kappa-subtypes, and an opioid receptor homologue for unknown ligands. In this report, we isolated and analyzed mouse genomic DNA segments containing the kappa-opioid receptor gene and a gene for the opioid receptor homologue (designated as MOR-C). The genes are closely related each other in exon-intron organization, suggesting their evolutional relationship. Using in situ hybridization, we show that the kappa-opioid receptor gene and the MOR-C gene map to mouse chromosome 1A2-3 and 2H2-4, respectively.

Amino Acid Sequence↗
PubMed1993

cDNA cloning and chromosomal mapping of the mouse type VII collagen gene (Col7a1): evidence for rapid evolutionary divergence of the gene.

Type VII collagen is the major component of anchoring fibrils, critical attachment structures at the dermal-epidermal basement membrane zone. Genetic linkage analyses with recently cloned human type VII collagen cDNAs have indicated that the corresponding gene, COL7A1, is the candidate gene in the dystrophic forms of epidermolysis bullosa. To gain insight into the evolutionary conservation of COL7A1, in this study we have isolated mouse type VII collagen cDNAs by screening a mouse epidermal keratinocyte cDNA library with a human COL7A1 cDNA. Two overlapping mouse cDNAs were isolated, and Northern hybridization of mouse epidermal keratinocyte RNA with one of them revealed the presence of a mRNA transcript of approximately 9.5 kb, the approximate size of the human COL7A1 mRNA. Nucleotide sequencing of the mouse cDNAs revealed a 2760-bp open reading frame that encodes the 5' half of the collagenous domain and a segment of the NC-1, the noncollagenous amino-terminal domain of type VII collagen. Comparison of the mouse amino acid sequences with the corresponding human sequences deduced from cDNAs revealed 82.5% identity. The evolutionary divergence of the gene was relatively rapid in comparison to other collagen genes. Despite the high degree of sequence variation, several sequences, including the size and the position of noncollagenous imperfections and interruptions within the Gly-X-Y repeat sequence, were precisely conserved. Finally, the mouse Col7a1 gene was located by interspecific backcross mapping to mouse Chromosome 9, a region that corresponds to human chromosome 3p21, the position of human COL7A1. This assignment confirms and extends the relationship between the mouse and the human chromosomes in this region of the genome.

Amino Acid Sequence↗
PubMed1995

Identification and chromosomal mapping of the mouse inositol polyphosphate 1-phosphatase gene.

A mouse inositol polyphosphate 1-phosphatase (Inpp1) cDNA fragment (348 bp) was amplified by means of the polymerase chain reaction using a mouse cDNA library as template with primers designed from published human and bovine cDNA sequences. We isolated a 1623-bp full-length Inpp1 cDNA from a mouse brain cDNA library using this amplified cDNA fragment as probe. Amino acid sequences of mouse, human, and bovine inositol polyphosphate 1-phosphatase are highly conserved. Northern blot analysis shows a major transcript of 1.65-kb mRNA and several higher molecular weight mRNAs that are expressed in a variety of mouse tissues. Utilizing the Jackson Lab backcross DNA panel map service, we mapped Inpp1 to chromosome 1, 1.06 cM proximal to Ctla4.

Amino Acid Sequence↗
PubMed1996

Genomic structure and chromosomal mapping of the mouse VE-cadherin gene (Cdh5).

Vascular endothelial cadherin (VE-cadherin) is located strictly at endothelial junctions and appears to be a major adhesive component of cell to cell contacts. Genomic clones spanning 36 kb and encompassing the mouse VE-cadherin gene have been isolated and characterized. The gene is composed of 12 exons that exhibit conventional vertebrate splicing. The first exon is entirely untranslated, and both exons 2 and 12 contain untranslated regions. A single major transcriptional start site was identified and located 75 bases upstream of the translation initiation codon in the cDNA sequence. The proximal 5'-flanking domain lacks consensus TATA and CAAT boxes at the usual positions. Exon-intron boundaries are similar to those of other cadherin genes, with some exceptions that may have a functional significance in VE-cadherin behavior. The VE-cadherin gene (locus Cdh5) maps to mouse chromosome 8, where it colocalizes with E-cadherin (locus Cdh1), P-cadherin (locus Cdh3), and M-cadherin (locus Cdh14) genes, suggesting that it might be part of a larger cluster of cadherin sequences.

Amino Acid Sequence↗
PubMed1997

Cloning, mRNA expression, and chromosomal mapping of mouse and human preprocortistatin.

Cortistatin is a 14-residue putative neuropeptide with strong structural similarity to somatostatin and is expressed predominantly in cortical GABAergic interneurons of rats. Administration of cortistatin into the brain ventricles specifically enhances slow-wave sleep, presumably by antagonizing the effects of acetylcholine on cortical excitability. Here we report the identification of cDNAs corresponding to mouse and human preprocortistatin and the mRNA distribution and gene mapping of mouse cortistatin. Analysis of the nucleotide and predicted amino acid sequences from rat and mouse reveals that the 14 C-terminal residues of preprocortistatin, which make up the sequence that is most similar to somatostatin, are conserved between species. Lack of conservation of other dibasic amino acid residues whose cleavage by prohormone convertases would give rise to additional peptides suggests that cortistatin-14 is the only active peptide derived from the precursor. As in the rat, mouse preprocortistatin mRNA is present in GABAergic interneurons in the cerebral cortex and hippocampus. The preprocortistatin gene maps to mouse chromosome 4, in a region showing conserved synteny with human 1p36. The human putative cortistatin peptide has an arginine for lysine substitution, compared to the rat and mouse products, and is N-terminally extended by 3 amino acids.

Amino Acid Sequence↗
PubMed1998

Genomic DNA sequence, promoter expression, and chromosomal mapping of rat muscle carnitine palmitoyltransferase I.

Carnitine palmitoyltransferase I (CPT-I) is a key enzyme involved in the regulation of fatty acid oxidation. CPT-IA and CPT-IB are isoforms of carnitine palmitoyltransferase I, of which CPT-IA is expressed in liver, kidney, fibroblasts, and heart and CPT-IB is expressed in skeletal muscle, heart, brown and white adipocytes, and testes. Although the genomic DNA sequence of human CPT-IB is available, the transcription start site and upstream regulatory sequences are not known. For rat CPT-IB, only the cDNA sequence has been published. We have cloned the entire rat CPT-IB gene from a Lambda fix II rat kidney genomic library. The genomic structure contains 19 exons, with the transcription start site for CPT-IB located in a short first exon, which is a 13-bp extension to the previously published cDNA 5' sequence. The coding sequence is identical with the rat muscle cDNA. The rat CPT-IB gene contains 18 introns and 19 exons, the latter 18 exons showing 85% homology to the human CPT-IB cDNA. CPT-IB maps to rat chromosome 7 at band q34. A putative promoter region was identified to within 391 bp of the transcription start site. The muscle specificity of the 5' flanking region was verified by comparison of luciferase expression to that of beta-galactosidase in cardiac myocytes and in HepG2 cells.

Animals↗
PubMed1999

Cloning and chromosomal mapping of a gene isolated from thymic stromal cells encoding a new mouse type II membrane serine protease, epithin, containing four LDL receptor modules and two CUB domains.

We cloned and sequenced a mouse gene encoding a new type of membrane bound serine protease (epithin) containing a multidomain structure. The initial cDNA clone was found previously in a polymerase chain reaction (PCR)-based subtractive library generated from fetal thymic stromal cells, and the message was shown to be highly expressed in a thymic epithelial nurse cell line. A clone isolated from a severe combined immunodeficiency (SCID) thymus library and extended to its full length at the 5' end with the RACE technique contains an open reading frame of 902 amino acids. Based on the sequence of this clone, the predicted protein structure is a type II membrane protein with a C-terminal serine protease domain linked to the membrane by four low density lipoprotein receptor modules and two CUB domains. High message expression by northern blotting was detected in intestine, kidney, lung, SCID, and Rag-2(-/-) thymus, and 2-deoxyguanosine-treated fetal thymic rudiment, but not in skeletal muscle, liver, heart, testis, and brain. Sorted MHC class II+ and II- fetal thymic stromal cells were positive for expression by reverse transcriptase-PCR, whereas CD45(+) thymocytes were not. The gene was found in chicken and multiple mammalian species under low stringency Southern hybridization conditions. Under high stringency conditions, only a single gene per haploid genome was identified in the mouse. This gene, Prss14 (protease, serine, 14), was mapped to mouse chromosome 9 and is closely linked to the Fli1 (Friend leukemia integration 1) gene.

Amino Acid Sequence↗
PubMed1997

Chromosome mapping of low-temperature induced Wcs120 family genes and regulation of cold-tolerance expression in wheat.

Low-temperature (LT) induced genes of the Wcs120 family in wheat (Triticum aestivum) were mapped to specific chromosome arms using Western and Southern blot analysis on the ditelocentric series in the cultivar Chinese Spring (CS). Identified genes were located on the long arms of the homoeologous group 6 chromosomes of all 3 genomes (A, B, and D) of hexaploid wheat. Related species carrying either the A, D, or AB genomes were also examined using Southern and Western analysis with the Wcs120 probe and the WCS120 antibody. All closely related species carrying one or more of the genomes of hexaploid wheat produced a 50 kDa protein that was identified by the antibody, and a Wcs120 homoeologue was detected by Southern analysis in all species. In the absence of chromosome arm 6DL in hexaploid CS wheat no 50 kDa protein was produced and the high-intensity Wcs120 band was missing, indicating 6DL as the location of Wcs120 but suggesting silencing of the Wcs120 homoeologue in the A genome. Levels of proteins that cross-reacted with the Wcs120 antibody and degrees of cold tolerance were also investigated in the Chinese Spring/Cheyenne (CS/CNN) chromosome substitution series. CNN chromosome 5A increased the cold tolerance of CS wheat. Densitometry scanning of Western blots to determine protein levels showed that the group 5 chromosome 5A had a regulatory effect on the expression of the Wcs120 gene family located on the group 6 chromosomes of all three hexaploid wheat genomes.

Adaptation, Physiological↗
PubMed2000

cDNA cloning, tissue expression, and chromosome mapping of human homolog of SOX18.

The SRY (sex-determining region Y) gene encodes a transcription factor characterized by a DNA-binding motif termed the HMG (high mobility group) domain. The SOX (Sry-box) genes comprise a large family related by homology to the HMG-box region. We isolated a cDNA clone with an open reading frame encoding a putative protein of 384 amino acids, which shared 83% identity to the mouse Sox18 protein. Northern blot analysis revealed that a 1.9-kb band of human SOX18 messenger RNAs was predominantly expressed in heart, although weak signals were seen in brain, liver, testis, and leukocyte. By polymerase chain reaction (PCR)-based analyses with both a human/rodent monochromosomal hybrid cell panel and a radiation hybrid panel, the gene was mapped to the chromosome 20q13.33 region.

Amino Acid Sequence↗
PubMed2006

Cloning, chromosome mapping and expression analysis of an R2R3-MYB gene under-expressed in maize hybrid.

R2R3-MYB transcription factors play important role in transcriptional controls during higher plant metabolism and development. In this study, an R2R3-MYB gene was isolated from maize according to an EST, which expressed differentially between a hybrid and the two parents on a cDNA chip. The full-length cDNA, designated by ZmMYBL1 (GenBank accession no. AY365033) consists of 1417 nucleotides and contains an open reading frame of 828 bp. The deduced amino acid sequence contained two conserved MYB domains near its N-terminus, a conserved E1 motif and an acidic Ser/Thr rich region toward its C-terminus. Southern blot analysis revealed ZmMYBL1 could be a single copy gene belonging to a multi-gene family in the maize genome. Expression analysis showed ZmMYBL1 transcripts accumulated in various tissues examined, with strong level in tassel and weak level in leaf. Also it was under-expressed in root, stem, and leaf of hybrid as compared with that of the two parents. ZmMYBL1 was mapped on maize chromosome bin7.03 between two SSR markers, bn1g339 and umc1865 using Yuyu22 recombinant inbred line population. A QTL for root average diameter in maize seedlings was also localized on the corresponding region of chromosome 7 within the interval ZmMYBLI-bnIg1805. A possible role of ZmMYBL1 and its relation to maize heterosis were discussed based on these results.

Amino Acid Sequence↗
PubMed1991

Molecular cloning of the murine ST2 gene. Characterization and chromosomal mapping.

The genomic locus of the murine ST2 gene was isolated based on homology with a murine ST2 complementary DNA sequence and its complete nucleotide sequence was determined. The locus is composed of eight exons and seven introns and is approx. 9 kilobase pairs in size. Two Sp1 binding sites are present in the 5' flanking region. The murine ST2 gene, which was expressed only in the growth-stimulated BALB/c-3T3 cells, was mapped to mouse chromosome one, very tightly linked to the interleukin 1 receptor-type 1 locus.

Animals↗
PubMed1994

Molecular cloning of a novel calcium-binding protein structurally related to hippocalcin from human brain and chromosomal mapping of its gene.

A cDNA clone (hHLP2) encoding a novel calcium-binding protein structurally related to hippocalcin has been isolated from the human hippocampus cDNA library. The primary structure consists of 193 amino acids, and contains three EF-hand structures and a possible NH2-terminal myristoylation site. A single transcript at a position corresponding to 1.7 kilobases was detected only in the brain. The hHLP2 gene was mapped to human chromosome 2.

Amino Acid Sequence↗
PubMed1997

Structure and chromosomal mapping of the mouse P2X3 gene.

P2X3 is one of seven cloned ATP-gated non-selective cation channels. We have isolated a full-length mouse P2X3 gene from a phage lambda-129/Sv genomic library. The gene consists of 12 exons spanning a locus of approximately 40 kb. No significant similarities have been found between the genomic organisation of the mouse P2X3 gene and genes encoding other ion channels. The encoded mouse P2X3 protein consists of 397 amino acids and shows 99% identity with rat P2X3. Using RNase protection and primer extension assays, multiple transcription initiation sites have been mapped in the mouse P2X3 promoter to a region 162-168 bp upstream of the translation initiation codon. The P2X3 gene has been mapped to mouse chromosome 2p by fluorescence in situ hybridisation. The RAG locus-associated gene T160 is located 1.8 kb upstream of the transcription start site of mouse P2X3 gene. The promoter region of the mouse P2X3 gene lacks a conventional TATA and CCAAT consensus sites, and initiator elements. P2X3 is the first member of the P2X gene family to be completely characterised.

Amino Acid Sequence↗
PubMed1997

Cloning, chromosomal mapping and expression pattern of the mouse Brca2 gene.

A proportion of human breast cancers result from an inherited predisposition to the disease. Mutations in the BRCA2 gene confer a high risk of breast cancer and are responsible for almost half of these cases. The recent cloning of the human BRCA2 gene has revealed that it encodes a large protein having little significant homology to known proteins. Here we describe the mouse Brca2 gene. The gene maps to mouse chromosome 5, consistent with its location on human chromosome 13q12. We have sequenced cDNA for the entire 3329 amino acid Brca2 protein and this has revealed that, like Brca1, Brca2 is relatively poorly conserved between humans and mice. Brca2 is transcribed in a diverse range of mouse tissues, and the pattern of expression is strikingly similar to that of Brca1. Taken together, our data highlight some intriguing similarities between two genes involved in inherited breast cancer susceptibility.

Amino Acid Sequence↗
PubMed2001

Isolation, characterization, and chromosome mapping of a human A-C1 Ha-Ras suppressor gene (HRASLS).

Recently, we cloned a cDNA encoding a novel mouse protein, named A-C1, by differential display between two mouse cell lines, embryonic fibroblast C3H10T1/2 and chondrogenic ATDC5. Mouse A-C1 has homology with a ras-responsive gene, rat Ha-rev107 (Hrasls), and modulates a Ha-ras-mediated signaling pathway. Here, we report a cDNA encoding a human homolog of mouse A-C1. The deduced amino acid sequence of human A-C1 consists of 168 amino acids, and shows 83% identity with that of mouse A-C1. Human A-C1 mRNA was expressed in skeletal muscle, testis, heart, brain, and thyroid in vivo. Moreover, expression of human A-C1 mRNA was detected at a high level in human osteosarcoma-derived U2OS cells in vitro. By FISH analysis the human A-C1 gene (HRASLS) was mapped to human chromosome 3q28--> q29.

Amino Acid Sequence↗
PubMed2000

Genomic organization, promoter analysis, and chromosomal mapping of the mouse gene encoding Cdk9.

Cdk9, previously known as PITALRE, belongs to the Cdc2 family of protein kinases. We report the isolation and characterization of the complete gene coding for the murine Cdk9 protein. The gene contains seven exons spanning over 6 kb of genomic DNA, and the exon/intron boundaries conformed to the GT/AG rule. The Cdk9 gene mapped on mouse chromosome 2, which is consistent with the known region of synteny with human chromosome 9q34.1. The length of the individual exons ranged from 82 to 850 bp, and introns ranged from 452 to 1,465 bp. The further 5' flanking region of the gene showed features of a housekeeping promoter, such as the lack of a canonical TATA box and the presence of a CCAAT box as well as several GC boxes, which are potential binding sites for numerous transcription factors. Additionally, we performed a basic analysis of the transcriptional activity of the promoter and found that the 364 bp of Cdk9 5' flanking region were able to elicit high transcriptional levels of a luciferase reporter gene in NIH3T3 cells. This study provides the molecular basis for understanding the transcriptional control of the Cdk9 gene, and could serve to facilitate the molecular genetic investigation of Cdk9 function during mouse embryonal development.

3T3 Cells↗