The Infona portal uses cookies, i.e. strings of text saved by a browser on the user's device. The portal can access those files and use them to remember the user's data, such as their chosen settings (screen view, interface language, etc.), or their login data. By using the Infona portal the user accepts automatic saving and using this information for portal operation purposes. More information on the subject can be found in the Privacy Policy and Terms of Service. By closing this window the user confirms that they have read the information on cookie usage, and they accept the privacy policy and the way cookies are used by the portal. You can change the cookie settings in your browser.
WW domains mediate protein–protein interactions in many intracellular processes. In pre-mRNA splicing, WW domains participate in cross-intron bridging. These WW domains are characterized by a central aromatic block of three tyrosine residues. We identified a novel protein containing the same type of WW domain. The gene encoding the protein, named WAC, is located in human chromosome 10p11.2–10p12.1...
We have shown by ndirect immunofluorescence and enhanced green fluorescent protein fusions that a mammalian sequence exhibiting similar levels of homology to the two yeast heme lyases Cyc3p (holocytochrome c synthase; HCCS) and Cyt2p (holocytochrome c 1 synthase; HCC 1 S) is also targeted to mitochondria. The human protein was able to complement the yeast Cyc3p (but not Cyt2p) deficiency,...
Northern blot analysis has shown that the human neurofibromatosis type 2 (NF2) cDNA hybridizes to multiple RNA species. To examine whether these hybridizing RNA species represent NF2 transcripts, we cloned the complete NF2 cDNA by a combination of techniques: 5′ and 3′ rapid amplification of cDNA ends, RT–PCR, and searching and sequencing the NF2-related cDNA clones from the IMAGE consortium. We showed...
LRPPRC (originally called LRP130) is an intracellular, 130-kD, leucine-rich protein that copurifies with the fibroblast growth factor receptor from liver cell extracts and has been detected in diverse multiprotein complexes from the cell membrane, cytoskeleton, and nucleus. Here we report results of a sequence homology analysis of LRPPRC and its SEC1 domain interactive partners. We found that 23 copies...
We have recently isolated a mouse ortholog of human GTF2IRD1 that is related to GTF2I. GTF2IRD1 and GTF2I proteins are characterized by the presence of multiple helix-loop-helix domains and a leucine zipper motif. Both paralogs are closely linked and deleted hemizygously in individuals with Williams syndrome, a dominant genetic condition characterized by unique neurocognitive and behavioral features...
We have previously reported a mouse zinc-finger protein gene, Zfp352 (formerly 2czf48), that is expressed in early mouse embryos. Here, we report the genomic structure of Zfp352 and its lung-specific homolog, Zfp353. The two genes map on different chromosomes at 4C6 and 8B3.1. Both genes are intronless, except for the presence of a single 4.6-kb intron in the 5′ untranslated region of Zfp352. The...
Connexins are the protein subunits of gap junction channels and are expressed in a highly regulated temporal and spatial pattern in embryonic development and adult life, with most cell types expressing more than one isoform. Connexin31 (Cx31) is encoded by the gene Gjb3 and expressed throughout mouse development n a complex pattern; in adult mice it becomes restricted to the granular layer of epidermis,...
Complete hydatidiform moles (CHMs) are diploid tumors that result from fertilization of an empty ovum by a haploid 23,X sperm. In most cases, the resulting duplication of the genome gives rise to a 46,XX genotype and is thought to be androgenetic in origin. If this hypothesis is correct, then the genotypes of all polymorphic markers in CHMs should be homozygous. We used a dense set of single-nucleotide...
Large-scale gene expression measurement techniques provide a unique opportunity to gain insight into biological processes under normal and pathological conditions. To interpret the changes in expression profiles for thousands of genes, we face the nontrivial problem of understanding the significance of these changes. In practice, the sources of background variability in expression data can be divided...
A large portion of human Xq28 has been completely characterized but the interval between G6PD and Xqter has remained poorly understood. Because of a lack of stable, high-density clone coverage in this region, we constructed a 1.6-Mb bacterial and P1 artificial chromosome (BAC and PAC, respectively) contig to expedite mapping, structural and evolutionary analysis, and sequencing. The contig helped...
Cellular RNAs in eukaryotes undergo extensive posttranscriptional modifications, but as yet only a few RNA-modifying enzymes have been identified and characterized. Here we report on the cloning of FTSJ2, a novel human gene encoding a putative RNA methyltransferase. FTSJ2 shares significant sequence homology with FtsJ/RrmJ, a recently identified Escherichia coli 23S rRNA uridine-2′-O-methyltransferase...
We have recently mapped a locus for hereditary prostate cancer (termed HPCX) to the long arm of the X chromosome (Xq25–q27) through a genome-wide linkage study. Here we report the construction of an ∼9-Mb sequence-ready bacterial clone contig map of Xq26.3–q27.3. The contig was constructed by screening BAC/PAC libraries with markers spaced at ∼85-kb intervals. We identified overlapping clones by end-sequencing...
We have identified a novel family of human major histocompatibility complex (MHC) class I genes. This MHC class I related gene family is defined by 10 members, among which 6 encode potentially functional glycoproteins. The 180-kb cluster containing them has been generated by serial duplication and minimal diversification of an ancestral prototype. They are not located within the MHC on 6p21.3, but...
System T is a Na + -independent transport system that selectively transports aromatic amino acids. Here, we determined the structure of the human T-type amino-acid transporter-1 (TAT1) cDNA and gene (SLC16A10). The human TAT1 cDNA encoded a 515-amino-acid protein with 12 putative membrane-spanning domains. Human SLC16A10 was localized on human chromosome 6, mapped to 6q21–q22. SLC16A10 contains...
The WD-repeat protein family consists of a large group of structurally related yet functionally diverse proteins found predominantly in eukaryotic cells. These factors contain several (4–16) copies of a recognizable amino-acid sequence motif (the WD unit) thought to be organized into a “propeller-like” structure involved in protein–protein regulatory interactions. Here, we report the cloning of a...
Human bone marrow stromal cells (HBMSC) are pluripotent cells with the potential to differentiate into osteoblasts, chondrocytes, myelosupportive stroma, and marrow adipocytes. We used high-throughput DNA sequencing analysis to generate 4258 single-pass sequencing reactions (known as expressed sequence tags, or ESTs) obtained from the 5′ (97) and 3′ (4161) ends of human cDNA clones from a HBMSC cDNA...
The subtelomeric region of human chromosome 4q contains the locus for facioscapulohumeral muscular dystrophy (FSHD). The FSHD mutation is a deletion within an array of 3.3-kb tandem repeats (D4Z4). The disease mechanism is unknown but is postulated to involve position effect. A closely related 3.3-kb array on chromosome 10qter, in contrast, is not associated with a disease phenotype. We show here...
Several neuropsychiatric disorders map to human 15q13–q14, which contains a strong candidate in the α7-nicotinic acetylcholine receptor subunit gene (CHRNA7) and is partly duplicated, complicating further genetic analysis. We have shown that the partial duplication is in a hybrid (CHRFAM7A)between CHRNA7 and one of many copies of a novel gene (FAM7A). We have constructed a 3-Mb map of 15q13–q14 showing...
Set the date range to filter the displayed results. You can set a starting date, ending date or both. You can enter the dates manually or choose them from the calendar.