Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound

---

Query: EC:3.4.21.4 (trypsin)
42,187 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

At the present time, the molecular nature of the fragile site at Xq27.3 is not well understood. To examine the sensitivity of this region to DNAase I, in situ nick translation was performed on metaphase chromosomes from a fragile X (fra(X] positive individual. In this technique DNAase I is used to nick regions of chromosomal DNA that are in "open" conformation. Biotinylated dUTP was incorporated by nick translation at these sites. The incorporation was identified by double antibody labeling and avidin-horseradish peroxidase staining. Spreads, which had been stained with this technique, were photographed and subsequently trypsin-Giemsa G banded (post-GTG banded) for chromosome identification. In 36 of 44 (82%) fra(X) positive male cells, the region distal to fra(X) (q27.3) was prominently stained in contrast to its light staining appearance in GTG preparations. The fragile site itself was outlined more clearly than can be achieved by GTG or homogeneous staining. When autosomal fragile sites were induced by the addition of 1.5 microM aphidicolin 17 hours prior to harvest, 24 of 27 (89%) fragile sites on the ends of autosomes were prominently stained in regions distal to the break. Because the fra(X) and autosomal fragile regions behaved similarly, this suggests that they have a similar conformation. Thus, while autosomal and Xq27.3 fragile sites are strongly induced by different means, the organization of these sites and the regions distal to them appear to be similar.
...
PMID:In situ nick translation of the fragile X region. 305 67

Using trypsin Giemsa banding (GTG), major polymorphisms of the constitutive heterochromatin regions of chromosome 1, 9, 16, and Y were recorded in a New York City population. Polymorphisms were recorded from amniotic fluid specimens received from 6,250 patients from 4 major population groups, ie, White (European)-2,334 cases, American Black-1,795 cases, Hispanic descent-1,737 cases, and Asian (Oriental and Indian)-384 cases. The major chromosomal polymorphisms were classified as follows: obvious pericentric inversion of the constitutive heterochromatin of the long arm of the chromosome (inv qh); significantly enlarged heterochromatic region of the long arm (qh + is greater than, or equal to, twice the size of the short arm of chromosome 16 [16p]); very small or deficient heterochromatic region in the long arm (qh-); large Y (Yq + greater than size of chromosome 18), small Y (Yq- less than size of a G-group chromosome), and pericentric inversion of Y. Our prenatal study confirmed that the incidence of specific chromosomal variants is different in each population group. The most striking examples of this are the pericentric inversion of chromosome 9 and the different polymorphisms of the Y chromosome. The incidence of inv (9) is highest in the Black population (3.57%); slightly above average in Hispanics (2.42%); and relatively low in Whites (0.73%) and Asians (0.26%). The Y appears to be more variable in Asian (3.37%) and Hispanic (1.82%) than in White or Black groups. The 9qh+ is seen more frequently than 1qh+, or 16qh+. Inv (1), 9qh-, and 16qh- are rare. There were no cases of either 1qh- or inv (16).(ABSTRACT TRUNCATED AT 250 WORDS)
...
PMID:Chromosomal polymorphisms of 1, 9, 16, and Y in 4 major ethnic groups: a large prenatal study. 381 84

One of the best documented autosomal linkage associations in man is on chromosome 1p and in the mouse on chromosome 4. On mitotic chromosomes this genetic homology is shown more clearly by early replication banding (RBG; induced by incorporation of 5'bromodeoxyuridine (BrdU) in the second half of the S phase) than by structural banding (induced on prefixed chromosomes by denaturation, RFA, or trypsin, GTG). To analyse this phenomenon in more detail, 11 chromosomal regions in man and the domestic cat with known genetic homology were compared. In four chromosome pairs RBG and GTG banding show the same degree of homology. In seven chromosome pairs the homology is more pronounced by RBG than by GTG banding. RFA banding does not reveal the same extent of homology as does RBG banding. These results clearly show a difference between the structural banding pattern, RFA and GTG, and the replication banding pattern, RBG. The following conclusions can be drawn: in chromosomal regions with homologous functions the DNA replicates in the same temporal order. Early replication banding (RBG) reveals a functional pattern in these regions which has been more strongly preserved during evolution than the underlying chromosomal DNA. Differences in chromosomal banding are most prominent in the GTG banding pattern, whereas similarities are most apparent in the RBG banding pattern.
...
PMID:Early replication banding reveals a strongly conserved functional pattern in mammalian chromosomes. 406 32

CD86 (B70/B7.2) is an antigen of the immunoglobulin superfamily expressed on monocytes, dendritic cells and activated B, T, and natural killer cells. CD86 was recently identified as a second ligand for the T cell antigens CD28 and CTLA-4, and plays an important role in the co-stimulation of T cells in a primary immune response. We report here the assignment of the CD86 gene to human chromosome 3 using Southern blot analysis on a panel of hamster x human somatic cell hybrid genomic DNA. Fluorescence hybridization in situ on metaphase chromosomes coupled with GTG banding (G-bands by trypsin using Giemsa staining) confirmed this assignment and localized the CD86 gene to 3q13-q23 region. The CD86 gene is, therefore, located in the proximity of the CD80 (B7/B7.1) gene, the first identified ligand for CD28 and CTLA-4, previously mapped to chromosome 3q13.3-q21. Deletions, inversions and insertions of chromosome 3q21-q26, as well as translocations of 3q21 with other chromosomes have been described in many cases of acute myeloid leukemia (AML), acute non-lymphocytic leukemia (ANLL), chronic myeloid leukemia (CML) and myelodisplastic syndromes (MDS), suggesting that this region contains several genes involved in the leukemic process.
...
PMID:CD28/CTLA-4 ligands: the gene encoding CD86 (B70/B7.2) maps to the same region as CD80 (B7/B7.1) gene in human chromosome 3q13-q23. 753 61

The activation of T lymphocytes, both in vivo and in vitro, induces the expression of CD69. This molecule, which appears to be the earliest inducible cell surface glycoprotein acquired during lymphoid activation, is involved in lymphocyte proliferation and functions as a signal transmitting receptor in lymphocytes, natural killer (NK) cells, and platelets. To determine the structural basis for CD69 function, the cDNA coding for CD69 was isolated by a polymerase chain reaction-based strategy using oligonucleotides deduced from peptide sequences of the purified protein. The isolated cDNA exhibited a single open reading frame of 597 bp coding for CD69, and predicted a 199-amino acid protein of type II membrane topology, with extracellular (COOH-terminal), transmembrane, and intracellular domains. The CD69 clone hybridized to a 1.7-kb mRNA species, which was rapidly induced and degraded after lymphocyte stimulation, consistent with the presence of rapid degradation signals at the 3' untranslated region. Transient expression of the polypeptide encoded by CD69 cDNA in COS-7 cells demonstrated that it presented properties comparable to native CD69 protein. The CD69 gene was regionally mapped to chromosome 12 p13-p12 by both somatic cell hybrid DNA analysis and fluorescence in situ hybridization coupled with GTG banding (G bands by trypsin using Giemsa). Protein sequence homology search revealed that CD69 is a new member of the Ca(2+)-dependent (C-type) lectin superfamily of type II transmembrane receptors, which includes the human NKG2, the rat NKR-P1, and the mouse NKR-P1 families of NK cell-specific genes. CD69 also has a structural homology with other type II lectin cell surface receptors, such as the T cell antigen Ly49, the low avidity immunoglobulin E receptor (CD23), and the hepatic asialoglycoprotein receptors. The CD69 protein also shares functional characteristics with most members of this superfamily, which act as transmembrane signaling receptors in early phases of cellular activation.
...
PMID:Molecular cloning, expression, and chromosomal localization of the human earliest lymphocyte activation antigen AIM/CD69, a new member of the C-type animal lectin superfamily of signal-transmitting receptors. 834 Jul 58

Endoglin is a homodimeric membrane glycoprotein primarily associated with human vascular endothelium. It is also found on bone marrow proerythroblasts, activated monocytes and on lymphoblasts in childhood leukemia. Endoglin has recently been described as a component of the transforming growth factor-beta (TGF-beta) receptor system as it can bind TGF-beta 1 with high affinity. We now report on the localization of the human endoglin gene (END) to human chromosome 9, by Southern blot analysis of BglII fragments of DNA from human-hamster somatic cell hybrids. This chromosomal localization was confirmed by fluorescent in situ hybridization coupled with Distamicin A (DA)/4',6-diamidino-2-phenylindole (DAPI) banding on human chromosomes. The regional localization was assigned to 9q34-->qter by GTG-banding (G-banding by trypsin using Giemsa stain), indicating a telomeric position with respect to the Philadelphia breakpoint.
...
PMID:Assignment of the human endoglin gene (END) to 9q34-->qter. 840 38

Scanning force microscopy was used to analyze banded human chromosomes and in situ hybridization patterns of biotinylated DNA probes. In standard human GTG-banded metaphase chromosome preparations (where GTG is G-banding with trypsin-Giemsa), chromosomal morphology and banding patterns were well preserved during the scanning procedure. The smallest identifiable features were in the range of about 100 nm and are similar to the typical structures seen by electron microscopy. In addition, in situ hybridization of human DNA probes of known chromosomal localization was used to map specific hybridization signals. Imaging of the precipitated crystals at the hybridization site clearly demonstrates the superior resolution of scanning force microscopy compared to conventional microscopy.
...
PMID:Analysis of banded human chromosomes and in situ hybridization patterns by scanning force microscopy. 846 Jan 66

In this study, we report conventional and molecular cytogenetic studies in a patient with multiple anomalies who is a carrier of a pericentric inversion on chromosome Y and a chromosome 15p+. His parents were phenotypically normal. The father is a carrier of a pericentric inversion of chromosome Y, and the mother carries a large chromosome 15p+ variant. The inverted Y chromosome was demonstrated by GTG- and CBG-banding, and DAPI-staining. The presence of extra chromosomal material on the chromosome 15p, that was C-band and DAPI positive, was demonstrated by trypsin G-banding. This suggests that the extra chromosomal material contained repetitive DNA sequences. NOR-staining indicated the presence a nuclear organizer region at the junction of the chromosome 15p+ material. Fluorescence in situ hybridization (FISH), with chromosome X and Y painting probes, alpha- and classic-satellite probes specific for chromosome Y, alpha- and beta-satellite III probes for chromosome 15 were used to elucidate the nature of both the inverted Y chromosome and chromosome 15p+. The result with chromosome X and Y painting probes, alpha-satellite, classic-satellite, and DYS59 probes specific for chromosome Y revealed the rearrangement of the Y chromosome was an inv(Y)(p11.2q11.22 or q11.23). FISH with alpha-satellite and beta-satellite III probes for chromosome 15 demonstrated that the extra chromosomal material on the chromosome 15 probably represents beta-satellite III sequences. The possible roles of the simultaneous occurrence of an inverted Y and the amplified DNA sequence on chromosome 15p in the abnormal phenotype of the proband are discussed.
...
PMID:Coexistence of inverted Y, chromosome 15p+ and abnormal phenotype. 1042 10

Comparative genomic hybridization (CGH) was used to clarify the chromosomal status of 15 patients diagnosed with childhood acute lymphoblastic leukemia (ALL). Bone marrow samples from 10 of the 15 patients were selected because no metaphases were obtained for cytogenetic analysis. Three patients with normal trypsin and giemsa banding (GTG) karyotypes were also studied by CGH to determine whether significant abnormalities might have been missed by banding analysis, and samples from an additional 2 patients with hyperdiploidy were also included. Seven of the 10 patients with failed GTG banding analysis were found to be chromosomally abnormal by CGH; 2 out of 3 patients with normal GTG band karyotypes were abnormal, indicating that the metaphases available for karyotyping were not malignant cells, and that CGH analysis of hyperdiploid samples provided more accurate resolution than karyotyping alone. The prognostic value of chromosomal aberrations detected by CGII and the efficiency of the technique suggest a central role for CGH in routine clinical cytogenetics.
...
PMID:Comparative genomic hybridization in pediatric acute lymphoblastic leukemia. 1073 56

Twenty-two cases with Turner syndrome features were subjected to standard cytogenetic techniques using giemsa trypsin (GTG-) banding then fluorescence in situ hybridization (FISH) using a specific whole-X chromosome painting probe, Quint-Essential Y-specific DNA probe (AMELY) for Yp11.2, alpha-satellite (DYZ3) probe and X/Y cocktail-alpha satellite probe (ONCOR) for confirmation of the initial diagnosis and comparison of the two techniques. Eight cases (36%) showed the same karyotype results by both techniques [5 cases: 45,X/46,XX, 2 cases: 45,X/46,X,i(Xq) and one case with a triple cell line 45,X/46,XX/47,XXX]. In the other 14 cases (64%) the FISH technique has identified a third cell line in 7 cases (32%), delineated the origin of the marker in 5 cases (23%) to be derivative X and clarified the deletion of the Yp11.2 region in 2 cases (9%) with the 45,X/46,XY karyotype. The application of FISH has highlighted the differences between the initial diagnosis based on the standard cytogenetic technique and the final diagnosis determined by the application of DNA probes specific for the X and Y chromosomes. FISH proved useful in detection of the low frequency cell lines which need analysis of a large number of metaphase spreads by GTG-banding, helped in identifying the nature and the origin of the unknown markers which has an important implication in the development of gonadal tumours and delineated the deletion of the Yp11.2 region in the 45,X/46,XY Turner patients.
...
PMID:Mosaic Turner syndrome: cytogenetics versus FISH. 1073 32


<< Previous 1 2 3 4 5 Next >>

---