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The membrane-type matrix metalloproteinases (MT-MMPs) constitute a newly discovered family of four enzymes within the matrix metalloproteinase (MMP) superfamily. We have mapped the genes for MT1-MMP (MMP14), MT2-MMP (MMP15), and MT3-MMP (MMP16) usingin situhybridization to human metaphase chromosomes. In contrast to the genes for many MMPs that are clustered on chromosome 11, the genes MMP14, MMP15,...
Usher syndrome type Ib is a recessive autosomal disorder manifested by congenital deafness, vestibular dysfunction, and progressive retinal degeneration. Mutations in the human myosin VIIa gene (MYO7A) have been reported to cause Usher type Ib. Here we report the genomic organization of MYO7A. An STS content map was determined to discover the YAC clones that would cover the critical region for Usher...
6-Phosphofructo-2-kinase/fructose-2,6-bisphosphatase (PFK-2/FBPase-2) catalyzes the synthesis and degradation of fructose-2,6-bisphosphate, a potent regulator of glycolysis. Previous studies assigned the gene for human liver PFK-2/FBPase-2 (HGMW-approved symbol PFKFB1) to the X chromosome; however, precise localization remained ambiguous, with the gene variously placed between Xcen–q13, Xq27–q28,...
Mouseeck,a member of theEPHgene family, has been mapped to mouse chromosome 4. The syntenic relationship between this chromosome and human chromosome 1 suggests that the humanECKgene maps to the distal short arm of human chromosome 1 (1p). Since this region is frequently deleted or altered in certain tumors of neuroectodermal origin, it is important to define the specific chromosomal localization...
Phenol- and monoamine-metabolizing sulfotransferases (STP and STM, respectively) are members of a superfamily of enzymes that add sulfate to a variety of xenobiotics and endobiotics containing hydroxyl or amino functional groups. To characterize related sulfotransferase genes further, we used extra-long PCR (XL-PCR) to generate three distinct sizes of amplification products from human genomic DNA...
A novel family of ancient transcription factors, the T-box family, involved in embryonic development in metazoans, was described recently. Four members of this family are grouped in two tightly linked pairs within the mouse genome. This arrangement can be explained by an original cluster formation followed by anen masseduplication. Here we demonstrate that this duplication event also included several...
We have previously located the genes of the five human main type H1 genes and the gene encoding the testicular subtype H1t to the region 21.1 to 22.2 on the short arm of chromosome 6. To investigate the organization of the histone genes in this region, we isolated two YACs from a human YAC library by PCR screening with primers specific for histone H1.1. This screen revealed two YAC clones. YAC Y23...
An intron capture strategy involving use of polymerase chain reaction was used to identify and map the mouse homologue of a human lysyl oxidase-like gene (LOXL). Oligonucleotides complementary to conserved domains within exons 4 and 5 of the human lysyl oxidase-like gene were used to amplify the corresponding segment from mouse genomic DNA. Sequencing of the resulting mouse DNA fragment of approximately...
Hereditary predisposition to multiple exostoses is a genetically heterogeneous disease. Recently, we have reported the identification of the EXT1 gene on human chromosome 8. We have now isolated a cDNA clone from a human adult lung cDNA library and have determined the genomic organization and promoter structure of the EXT1 gene. The gene is composed of 11 exons, ranging from 90 to 1735 bp, and spans...
NEUROD2 and NEUROD3 are transcription factors involved in neurogenesis that are related to the basic helix–loop–helix protein NEUROD.NEUROD2maps to human chromosome 17q12 and mouse chromosome 11.NEUROD3maps to human chromosome 5q23–q31 and mouse chromosome 13.
Human collagenase-3 (MMP13) is a recently identified member of the matrix metalloproteinase (MMP) family that is expressed in breast carcinomas and in articular cartilage from arthritic patients. In this work we have isolated and characterized genomic clones coding for human collagenase-3. This gene is composed of 10 exons and 9 introns and spans over 12.5 kb. The overall organization of the collagenase-3...
We recently cloned a cDNA forCLN3,the gene for juvenile-onset neuronal ceroid lipofuscinosis or Batten disease. To resolve the genomic organization we used a cosmid clone containingCLN3to sequence the entire gene in addition to 1.1 kb 5′ of the start of the publishedCLN3cDNA and 0.3 kb 3′ to the polyadenylation site.CLN3is organized into at least 15 exons spanning 15 kb and ranging from 47 to 356...
Gene MAGE-4 (HGMW-approved symbol MAGE4) is expressed in several types of tumors, but not in normal tissues, except testis and placenta. The 5′ end of this gene contains eight homologous exons spread over a 5.8-kb region. These exons are alternatively spliced to a unique second exon and a unique third exon, which encodes a protein of 317 amino acids. The analysis of transcripts found in testis, placenta,...
In search of candidate genes for hereditary retinal disease, we have employed a subtractive and differential cDNA cloning strategy and isolated a novel retina-specific cDNA. Nucleotide sequence analysis revealed an open reading frame of 2187 bp, which encodes a 729-amino-acid protein with a calculated molecular mass of 80,644 Da. The putative protein contained a conserved domain of copper amine oxidase,...
Mutations in the humanBRCA2gene are responsible for about 45% of hereditary early onset breast cancer. Recently, the humanBRCA2gene was cloned, and several germline mutations were identified. Here we describe the cloning of the mouse homologue ofBRCA2.The mouse cDNA sequence predicts a 3328-amino-acid Brca2 protein, 90 amino acids shorter than the human protein. The overall identity between the mouse...
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