Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:Q9UIJ5 (Rec)
 58,342 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Drosophila melanogaster stock consisting of meiotic recombination deficient (Rec-) double mutant mei-9a mei-41D5 males and Rec+ females was exposed at the larval stage to an aromatic amine or a polycyclic aromatic hydrocarbon. After emergence as adult flies, the males and the females were scored separately. When the treatment caused a dose-dependent reduction in the male to female ratio from the control level; the experiment was repeated with a larval stock consisting of Rec+ males and Rec+ females under comparable conditions. A preferential killing effect upon Rec- larvae was taken as evidence of DNA damaging effect of the test compound. Among 16 compounds tested, 1-AP, B(a)P, 2-AF, DAF, 4-AAF, 2-AAF, 1-AA, 2-AA, DMA, B(a)A and DMBA were registered as positive; Py and 3-MC were weakly positive; and B(e)P, Fluo and Ant were negative. The selective killing effects of the compounds in each of the pyrene, fluorene and anthracene series varied drastically as a function of structure in a way similar to that reported for the genotoxicity in Drosophila and the carcinogenicity in rodents. The Drosophila DNA repair assay will serve as a simple adjunct to the already available means for studying the genotoxic potency of aromatic amines and polycyclic aromatic hydrocarbons.
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PMID:Genotoxic potency in Drosophila melanogaster of selected aromatic amines and polycyclic aromatic hydrocarbons as assayed in the DNA repair test. 769 8

An informative patient with a MCA/MR syndrome consisting of developmental delay, prenatal onset growth delay, microcephaly, distinctive face, iris coloboma, and a congenital heart defect was found, on chromosome analysis, to have the following complement: 46,XY,rec(4) dup(4p) inv(4)(p14q35.1) mat. He has a partial 4p trisomy/distal 4q deletion due to an unbalanced pericentric inversion inherited from his mother. Dup (4p) trisomy was originally described by Wilson et al. [1970: Am J Hum Genet 22:679-690] in a similar case with the same chromosome 4 inversion. To date, at least 85 cases of dup (4p) syndrome have been published, mostly due to unbalanced translocations. Recent articles suggest that the phenotype is hard to recognize clinically due to the lack of specificity of findings. In contrast, 4p trisomy due to an unbalanced pericentric inversion of chromosome 4(p14q35), i.e., the recombinant 4 syndrome observed in our patient, appears to be a discrete entity with relatively consistent features. In total there are four other kindreds described in the literature with this inversion, and the phenotype seems recognizable. Thus, we suggest that recombinant 4 syndrome is a discrete entity among 4p trisomy patients.
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PMID:Recombinant 4 syndrome due to an unbalanced pericentric inversion of chromosome 4. 1223 31

Proprotein convertase 4 (PC4) is a member of Ca2+-dependent mammalian subtilases called Proprotein convertases (PCs) or Proprotein convertases subtilisin kexin (PCSK). PC4 plays a key role in mammalian fertilization, sperm maturation and sperm-egg fusion. Full length and C-terminal truncated rPC4 have been expressed using Leishmania tarentolae expression system. Secreted soluble enzyme was recovered in good yield from concentrate medium and purified by DEAE anion exchange and arginine-agarose column chromatographies. This is the first attempt to produce rec (recombinant) PC4 by Leishmania expression system in reasonably pure and enzymatically active form. The eluted fraction contained PC4 protein as confirmed by immunoreactivity using PC4-specific antibodies. Two protein bands at approximately 62, 53 kDa in SDS-PAGE were attributed to C-terminal truncated PC4 forms. The fraction displayed strong protease activity towards fluorogenic Boc-RVRR-MCA and various intramolecularly quenched peptides derived from PC4-substrates. It also cleaved proIGF-2 to produce active IGF-2 confirming its role in this maturation process. Moreover PC4-mediated proteolysis was efficiently blocked by a newly designed prodomain rPC4(101-116) peptide with IC(50) in low microM level. Similar but more potent PC4-inhibitory activity with K(i) in low nM range was observed with the tetrapeptide chloromethyl ketones, Dec-RVKR/K-cmk (chloromethyl ketone). The study showed that such PC4 inhibitors may find potential therapeutic and clinical applications in male fertility.
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PMID:Recombinant proprotein convertase 4 (PC4) from Leishmania tarentolae expression system: purification, biochemical study and inhibitor design. 1848 34