Diurnal variation in the serotonin content and turnover in the pineal gland of the Syrian hamster

Serotonin and 5-hydroxyindoleacetic acid were measured in the pineal gland of Syrian hamsters by high performance liquid chromatography over a period of 24 h. A distinct 24 h rhythm was detected for both indoles. Turnover studies revealed a higher rate of serotonin synthesis during the day than during the night. We therefore suggest that the serotonin content in the pineal gland of the Syrian hamster is regulated by changes in its synthesis rate, rather than by changes of serotonin catabolism, via N-acetyltransferase activity.     

Presence of the AZF region in a female with an idic(Y)(q11)

In a child with some features of Turner's syndrome, gonosomal mosaicism with an isodicentric nonfluorescent (idic)Y chromosome was detected (mos 45,X/47,X,idic(Y)(q11),idic(Y)(11)/46,X,idic(Y)(q11)). Histopathological examination showed streak gonads with some evidence of ovarian stroma and no sign of gonadoblastoma. Polymerase chain reaction (PCR) analysis in blood lymphocytes and gonadal tissues using primers of seven loci along the Y chromosome, including the sex determined region (SRY), azoospermia factor region (AZF) and the deleted in azoospermia ( DAZ ) gene was positive for all loci tested, confirming the isodicentric character of the Y chromosome and indicating the presence of the AZF region. It is remarkable that the existence of spermatogenesis controlling genes does not play an important role in gonadal development and differentiation in a phenotypic female with some Turner stigmata. The data presented here are briefly discussed with previously-described patients.     

Unusual reactions following insect stings. Clinical features and immunologic analysis.

Fifteen patients were studied who had unusual reactions following insect stings. These included serum sickness, neurologic disease, renal disease, and delayed hypersensitivity-type reactions. The clinical features are briefly outlined. Measurements were made of serum venom-specific IgE and IgG antibodies. These antibodies were present in some patients and in these instances suggested an immunologic pathogenesis for the reactions. Alternative etiologies for the unusual reactions are also discussed.     

Subsensitivity of T lymphocytes to sympathomimetic and cholinergic stimulation in bronchial asthma.

The effect of adrenergic and cholinergic drugs on short incubation “active” E rosette formation was studied in 19 patients with bronchial asthma and 17 healthy controls. Both groups had an equal absolute number of baseline “active” E rosettes, but the asthmatics demonstrated a higher percent baseline value. The beta adrenergic drug isoproterenol (10^?3 M) inhibited the formation of “active” E rosettes in asthmatics by only 18.0% as compared to a 60.8% inhibition in the control group. Carbamylcholine (10^?5 M) a cholinergic agonist, also showed a lower than normal response in asthmatics, 34.3% enhancement of “active” E rosetting compared to a 52.4% enhancement in the controls. The alpha adrenergic agent phenylephrine (10^?5 M) exhibited equal enhancing effects in both groups, 34.2% in the asthmatics and 36.5% in the controls. Isoproterenol (10^?3 M) had a minimal effect on inhibition of long incubation “total” E rosettes in both groups studied. The beta adrenergic abnormality conforms to the beta blockade theory of asthma of Szentivanyi. The cholinergic abnormality is unexplained in view of the hyperresponsiveness of patients with asthma to cholinergic agents in vivo. Patients with bronchial asthma probably have an autonomic dysfunction that may play a role in the pathogenesis of their disease.     

Identification of mutations preventing n-hexadecane uptake among 26 n-alkane non-utilizing mutants of Yarrowia (Saccharomycopsis) lipolytica

Summary Genetic analyses of n-alkane non-utilizing mutants of the yeast Yarrowia (Saccharomycopsis) lipolytica were continued. By analyses of inter-mutant complementation and recombination a total of 26 genetic loci have been identified. Mutations representing these loci have phenotypes characteristic of defects in substrate uptake or in one or more of the enzymatic activities making up the hydroxylase complex. Tests of ¹⁴C n-hexadecane uptake by a set of alkane-negative mutants representing the 26 loci show that 16 of the mutations cause a significant reduction in n-alkane uptake. N-alkane uptake by Y. lipolytica is shown to be inducible and to be inhibited by the metabolic poisons 2–4 dinitrophenol and KCN. The latter observation indicates that n-alkane uptake of Y. lipolytica is due to active transport.     

A comparison of the bronchodilator activity of Sch 1000 and salbutamol.

The effects of the beta 2-adrenergic agonist, salbutamol, 200 mug, and the cholinergic antagonist, Sch 1000, 40 mug, have been compared in 25 asthmatic patients using a single dose, double-blind, crossover trial design. Salbutamol aerosol produces a greater degree of bronchodilatation than Sch 1000 aerosol during the initial three hours following drug administration. There is no significant difference in the bronchodilator effects of the two drugs in the interval four to eight hours after drug administration. Nonatopic patients showed less difference in bronchodilator response to each of the two drugs than atopic patients. Neither drug showed any significant adverse effect on blood pressure, pulse rate, or electrocardiogram. In six asthmatic patients the effect of the combination of salbutamol, 200 mug, and Sch 1000, 40 mug, was evaluated. The combination produced a longer duration of bronchodilatation than either drug alone when compared to placebo.     

鄂伦春族Y染色体短串联重复序列多态性研究

目的 调查鄂伦春族Y染色体上10个短串联重复序列基因座及单倍型的遗传多态性。方法 应用PCR和变性聚丙烯酰胺凝胶电泳结合银染显色分型技术，检测102名无关系鄂伦春族男性血样。结果 在DYS392、DYS438、DYS439、DYS456、DYS459、DYS460、DYS461、DYS462、DYS389Ⅰ、DYS389Ⅱ等10个基因座中共检出44个等位基因，等位基因频率分布在0．418（DYS461）至0．727（DYS389Ⅰ）之间，除了DYS461（0．418）和DYS462（0．479）以外，其余等位基因频率均大于0．5。由10个基因座组成的Y染色体单倍型系统单倍型有101种，单倍型频率0．99。结论 上述10个Y-短串联重复基因座在鄂伦春族群体中具有较好的多态性，单倍型具有很高的遗传多态性。     

Spermatozoal nuclear determinants of reproductive outcome: implications for ART

A male factor is implicated in more than 50% of couples treated with IVF. However, neither the routine testing of male fertility potential nor its treatment address the specific mechanisms by which spermatozoal factors may impact upon reproductive outcome. An important function of spermatozoa is to deliver the paternal genome to the oocyte. Recently, a number of acquired spermatozoal nuclear factors that may have implications on reproductive outcome have been described. These include non-specific DNA strand breaks, numerical abnormalities in spermatozoal chromosome content, Y chromosome microdeletions and alterations in the epigenetic regulation of paternal genome. The exact mechanisms by which these factors affect reproduction are unknown and their implications for assisted reproduction technology outcome need to be further investigated. These recent findings point to the need for novel and more personalized approaches to test and treat male factor infertility.     

The prognostic role of the extent of Y microdeletion on spermatogenesis and maturity of Sertoli cells

Substantial involvement of the Y chromosome in sexual development and spermatogenesis has been demonstrated. Over the last decade, varying extent of Y chromosome microdeletions have been identified among infertile patients with azoospermia or oligozoospermia. These microdeletions were clustered in three main regions named AZFa, AZFb, and AZFc. Analysis of the Y chromosome microdeletion was found to be of prognostic value in cases of infertility, both in terms of clinical management as well as for understanding the aetiology of the spermatogenesis impairment. However, the accumulated data are difficult to analyse, due to the variable extent of these deletions, the different sequence-tagged sites (STS) used to detect the microdeletions, and the non-uniformity of the histological terminology used by different investigators. This debate discusses the chances of finding testicular spermatozoa in men with a varying extent of Y chromosome microdeletions. The genotype and germ cell findings in men with AZFa microdeletions as well as those that include more than a single AZF region are reviewed, as is the effect of Y chromosome AZF microdeletions on the maturity of the Sertoli cells.     

Construction of a highly enriched marsupial Y chromosome-specific BAC sub-library using isolated Y chromosomes

The Y chromosome is perhaps the most interesting element of the mammalian genome but comparative analysis of the Y chromosome has been impeded by the difficulty of assembling a shotgun sequence of the Y. BAC-based sequencing has been successful for the human and chimpanzee Y but is difficult to do efficiently for an atypical mammalian model species (Skaletsky et al. 2003, Kuroki et al. 2006). We show how Y-specific sub-libraries can be efficiently constructed using DNA amplified from microdissected or flow-sorted Y chromosomes. A Bacterial Artificial Chromosome (BAC) library was constructed from the model marsupial, the tammar wallaby (Macropus eugenii). We screened this library for Y chromosome-derived BAC clones using DNA from both a microdissected Y chromosome and a flow-sorted Y chromosome in order to create a Y chromosome-specific sub-library. We expected that the tammar wallaby Y chromosome should detect ∼100 clones from the 2.2 times redundant library. The microdissected Y DNA detected 85 clones, 82% of which mapped to the Y chromosome and the flow-sorted Y DNA detected 71 clones, 48% of which mapped to the Y chromosome. Overall, this represented a ∼330-fold enrichment for Y chromosome clones. This presents an ideal method for the creation of highly enriched chromosome-specific sub-libraries suitable for BAC-based sequencing of the Y chromosome of any mammalian species.