A plastome mutation affects processing of both chloroplast and nuclear DNA-encoded plastid proteins

Summary A bovine tRNA gene cluster has been characterized and the sequences of four tDNAs determined. Two of the tDNAs could encode tRNA^Ser _IGA, one tDNA^Ser _UGA, and the fourth tRNA^Gln _CUG. The three serine tDNAs representing the UCN codon isoacceptor family are almost identical. However, the sequence of the tDNA^Ser _TGA differs from a previously sequenced bovine tDNA^Ser _TGA at 12 positions (ca. 14%). This finding suggests that in the bovine genome, two subfamilies of genes might encode tRNA^Ser _UGA. It also raises the possibility that new genes for a specific UCN isoacceptor might arise from the genes of a different isoacceptor, and could explain previously observed differences between species in the anticodons of coevolving pairs of tRNAs^Ser _UCN. The gene cluster also contains complete and partial copies, and fragments, of the BCS (bovine consensus sequence) SINE (short interspersed nuclear element) family, six examples of which were sequenced. Some of these elements occur in close proximity to two of the serine tDNAs.     

The fat tumor suppressor gene in Drosophila encodes a novel member of the cadherin gene superfamily

Recessive lethal mutations in the fat locus of Drosophila cause hyperplastic, tumor-like overgrowth of larval imaginal discs, defects in differentiation and morphogenesis, and death during the pupal stage. Clones of mutant cells induced by mitotic recombination demonstrate that the overgrowth phenotype is cell autonomous. Here we show that the fat locus encodes a novel member of the cadherin gene superfamily: an enormous transmembrane protein of over 5000 amino acids with a putative signal sequence, 34 tandem cadherin domains, four EGF-like repeats, a transmembrane domain, and a novel cytoplasmic domain. Two recessive lethal alleles contain alterations in the fat coding sequence, and the dominant fat allele, Gull, contains an insertion of a transposable element in the 33rd cadherin domain. Thus, this novel member of the cadherin gene superfamily functions as a tumor suppressor gene and is required for correct morphogenesis.     

A technique for transrectal ultrasonography of stallions during ejaculation

A technique was developed in which the accessory sex glands of stallions were visualized with transrectal ultrasonography during ejaculation. The technique was judged to be effective, since 10 of 11 stallions were trained to tolerate transrectal ultrasonography during ejaculation; they ejaculated during 195 of 200 attempts, and acceptable visualization of their accessory sex glands and excurrent ducts occurred during 97 of 195 ejaculations. Sixty-five percent (89 136 ) of the recordings were successful for stallions that weighed more than 300 kg, whereas 14% (8 59 ) of the recordings were successful for stallions weighing less than 300 kg. The 98 unsuccessful attempts were caused by inaccurate transducer placement due to the small size of the pelvic canal(33 98 ), excessive transducer movement due to stallion movement (32 98 ), indistinct ultrasound images (28 98 ) and human error (5 98 ). The technique was judged to be safe, since no stallions or personnel sustained serious injuries during 200 data collection attempts.     

Isolation and characteristics of Thiopedia rosea (neotype)

Four new strains of Thiopedia rosea were isolated in pure culture from blooms of platelet-forming purple sulfur bacteria in the top layers of the anoxic hypolimnia of two freshwater lakes. Individual cells of the new strains as well as of T. rosea strain 4211 were spherical to oval, nonmotile and contained gas vesicles in the central part. The predominant photosynthetic pigments were bacteriochlorophyll a and okenone. All strains were strictly anaerobic and obligately phototrophic. Optimal growth occurred at low light intensities of 100 E · m^-2 s^-1 (tungsten lamp); intensities above 150 E · m^-2 s^-1 inhibited growth completely. Photoautotrophic growth was possible at sulfide concentrations up to 0.6 mM; higher concentrations were inhibitory. Acetate, butyrate and valerate supported photoorganotrophic growth in the presence of bicarbonate and sulfide concentrations below 1 mM. Sulfide was required as a source of cellular sulfur because assimilatory sulfate reduction is lacking. All strains were assigned to the species Thiopedia rosea with strain 4211 as a neotype.Dedicated to Prof. Dr. H. G. Schlegel on the occasion of his 66th birthday     

Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17

Summary Paramyotonia congenita (PC), an autosomal dominant non-progressive muscle disorder, is characterised by cold-induced stiffness followed by muscle weakness. The weakness is caused by a dysfunction of the sodium channel in muscle fibre. Parts of the gene coding for the -subunit of the sodium channel of the adult human skeletal muscle (SCN4A) have been localised on chromosome 17. To investigate the role of this gene in the etiology of PC, a linkage analysis in 17 well-defined families was carried out. The results (z=20.61, =0.001) show that the mutant gene responsible for the disorder is indeed tightly linked to the SCN4A gene. The mutation causing hyperkalemic periodic paralysis (HyperPP) with myotonia has previously been mapped to this gene locus by the same candidate gene approach. Thus, our data suggest that PC and HyperPP are caused by allelic mutations at a single locus on chromosome 17.Dedicated to Professor P. E. Becker on the occasion of his 83rd birthday.     

Molecular characterization of a patient with del(1)(q23–q25)

Summary We report a patient (S.T.) with multiple congenital anomalies and developmental delay associated with an interstitial deletion of 1q23–1q25. Molecular analysis of the deletion was performed using DNA markers that map to 1q. Five DNA markers, MLAJ-1 (D1S61), CRI-L1054 (D1S42), HBI40 (D1S66), OS-6 (D1S75), and BH516 (D1S110), were demonstrated to be deleted. Informative polymorphisms demonstrated this to be a de novo deletion of the maternally derived chromosome. Deletion status was determined using restriction fragment length polymorphism (RFLP) analysis supplemented with densitometry in the experiments where RFLP analysis was not fully informative. Deletions were confirmed by Southern analysis using genomic DNA from a somatic cell hybrid retaining the del(1)(q23–q25) chromosome that was constructed from patient S.T. Flow karyotyping confirmed the deletion and estimated that the deletion encompassed 11,000–16,000 kb. The clinical and cytogenetic characteristics of S.T. are compared with those of ten previously described patients with monosomy 1q21–1q25.