Partial trisomy 20p resulting from a recombination of a familial pericentric inversion

Summary Recombination of an inherited pericentric inversion of chromosome 20 has given rise to a child with partial trisomy 20p. To our knowledge no previous familial inversions of this chromosome have been described in the literature.     

ATP synthase from bovine mitochondria: sequences of imported precursors of oligomycin sensitivity conferral protein, factor 6, and adenosinetriphosphatase inhibitor protein

Oligomycin sensitivity conferral protein (OSCP), factor 6 (F6), and ATPase inhibitor protein are all components of the ATP synthase complex of bovine mitochondria. They are encoded in nuclear DNA. Complementary DNA clones encoding the precursors of these proteins have been isolated from a bovine library by using mixtures of synthetic oligonucleotides as hybridization probes, and their DNA sequences have been determined. The deduced protein sequences show that the OSCP, F6, and inhibitor proteins have N-terminal presequences of 23, 32, and 25 amino acids, respectively. These presequences are not present in the mature proteins. It is assumed that they serve to direct the proteins into the mitochondrial matrix. The cDNA clones have also been employed as hybridization probes to investigate the genetic complexity of the three proteins in cows and humans. These experiments indicate that the bovine and human inhibitor and bovine F6 proteins are encoded by single genes but suggest the possibility of the presence in both species of more than one gene (or pseudogenes) for the OSCP.     

Adoptive transfer of the entire gld (generalized lymphoproliferative disease) syndrome in nude beige mice by a single gld thymocyte graft.

C57BL/6 nude beige mice (B6 nubq; no T cell, no NK activity) were used as recipients for the adoptive transfer of thymocytes from B6 gld mice (generalized lymphoproliferative disease) which are a model of systemic lupus erythematous. The [gld----nubg] chimeras showed several similarities with gld control mice including the T cell disorders (lymphoproliferation and Con A-response deficiency of splenocytes) and B cell disorders (hyperglobulinemia and elevated anti-single-stranded DNA antibody titers). This suggests that the gld lymphoproliferative disorder has a thymic origin (and does not result from an abnormally extrathymic T cell development) and that the gld T cells have an essential role for the emergence of the disorders of both the T and B cells.     

Prostaglandin induction of spawning behavior in Cichlasoma bimaculatum (Pisces cichlidae)

Prostaglandin (PG) stimulates female spawning behavior in goldfish and in some other teleosts in which female reproductive behaviors consist of postovulatory oviposition acts. This study examined the effects of PG on female sexual behavior in a teleost fish, Cichlasoma bimaculatum, in which female reproductive behaviors involve both preovulatory courtship and substrate cleaning behaviors, and post-ovulatory oviposition behavior. In females of established pairs, PGF2 alpha injection (5 micrograms, im) at any stage of the spawning cycle, or in the parental phase, rapidly induced substrate cleaning which soon merged into oviposition behavior (without egg release). These results support a role for PG in oviposition behavior of Cichlasoma. However, indomethacin (1 mg, ip), a PG synthesis inhibitor, did not block oviposition in ovulated females which had begun to spawn. Indomethacin may not have lowered PG levels sufficiently. Alternatively, as shown by J.J. Polder (1971, Neth. J. Zool. 21, 265), oviposition behavior may be induced or maintained by other factors associated with the spawning situation.     

Trichoderma reesei sequences that bind to the nuclear matrix enhance transformation frequency

Three DNA fragments, trs1, 2 and 3, were isolated from the Trichoderma reesei genome on the basis of their ability to promote autonomous replication of plasmids in Saccharomyces cerevisiae. Each trs element bound specifically to the isolated T. reesei nuclear matrix in vitro, and two of them bound in vivo, indicating that they are matrix attachment regions (MARs). A similar sequence previously isolated from Aspergillus nidulans (ans1) was also shown to bind specifically to the T. reesei nuclear matrix in vitro. The T. reesei MARs are AT-rich sequences containing 70%, 86% and 73% A+T over 2.9, 0.8 and 3.7 kb, respectively for trs1, 2 and 3. They exhibited no significant sequence homology, but were shown to contain a number of sequence motifs that occur frequently in many MARs identified in other eukaryotes. However, these motifs occurred as frequently in the trs elements as in randomly generated sequences with the same A+T content. trs1 and 3 were shown to be present as single copies in the T. reesei genome. The presence of the trs elements in transforming plasmids enhanced the frequency of integrative transformation of T. reesei up to five fold over plasmids without a trs. No evidence was obtained to suggest that the trs elements promoted efficient replication of plasmids in T. reseei. A mechanism for the enhancement of transformation frequency by the trs elements is proposed. Received: 1 March 1997 / Accepted: 13 May 1997     

Inflammation markers in the serum of salt miners

The inflammation markers alpha-1-antitrypsin (AAT), Clara cell protein (CC-16), soluble interleukin-2-receptor (IL-R) and the soluble adhesion molecule E-selectin, the intercellular adhesion molecule (ICAM-1) and the vascular adhesion molecule (VCAM-1) were determined in the serum of 195 salt-exposed miners to analyse dose-response relationships between markers and potash dust. Alpha-1-antitrypsin, Clara-cell protein, IL2-R, E-selectin and VCAM-1 were not changed by salt exposure, however the ICAM-1 level in the serum fell slightly as the salt exposure increased. This effect was strongest in the group of smokers, still visible in the group of ex-smokers, no effect was seen in non-smokers. Markers, with the exception of VCAM-1, were influenced by tobacco exposure. Since markers were not elevated in relation to salt dust exposure, the results do not support an inflammatory effect of potash dust on the respiratory system.