Spontaneous allelic variant in deafness–blindness gene Ush1g resulting in an expanded phenotype

Relationships between novel phenotypic behaviors and specific genetic alterations are often discovered using target-specific, directed mutagenesis or phenotypic selection following chemical mutagenesis. An alternative approach is to exploit deficiencies in DNA repair pathways that maintain genetic integrity in response to spontaneously induced damage. Mice deficient in the DNA glycosylase NEIL1 show elevated spontaneous mutations, which arise from translesion DNA synthesis past oxidatively induced base damage. Several litters of Neil1 knockout mice included animals that were distinguished by their backwards-walking behavior in open-field environments, while maintaining frantic forward movements in their home cage environment. Other phenotypic manifestations included swim test failures, head tilting and circling. Mapping of the mutation that conferred these behaviors showed the introduction of a stop codon at amino acid 4 of the Ush1g gene. Ush1g^bw/bw null mice displayed auditory and vestibular defects that are commonly seen with mutations affecting inner-ear hair-cell function, including a complete lack of auditory brainstem responses and vestibular-evoked potentials. As in other Usher syndrome type I mutant mouse lines, hair cell phenotypes included disorganized and split hair bundles, as well as altered distribution of proteins for stereocilia that localize to the tips of row 1 or row 2. Disruption to the bundle and kinocilium displacement suggested that USH1G is essential for forming the hair cell's kinocilial links. Consistent with other Usher type 1 models, Ush1g^bw/bw mice had no substantial retinal degeneration compared with Ush1g^bw/+ controls. In contrast to previously described Ush1g alleles, this new allele provides the first knockout model for this gene.     

低pH条件对紫花苜蓿结瘤的影响及机制初探

探讨了低pH条件下紫花苜蓿根毛变形和结瘤受到的影响及其机制。结果表明,在低pH条件下,初生根伸长和根瘤菌OD600值显著下降,根共生结瘤受到明显抑制。在接种根瘤菌、不加NF的条件下,pH5.0、pH4.7、pH4.5、pH4.2处理的根毛变形率分别比对照(pH6.5)减少了44.1%、56.4%、60.0%和69.0%;在加入NF、不接种根瘤菌的情况下,低pH(4.5)处理,根毛的变形也比对照(pH6.5)减少了45.9%。结果暗示,低pH条件下苜蓿结瘤初期的结瘤信号传导受阻,这可能是导致酸性条件下苜蓿结瘤减少的重要原因之一。     

Validity of hair mineral testing

The variance of testing was compared between the College of American Pathologists clinical survey and that of a recent review about hair mineral testing. The review suggested that the accuracy of hair mineral testing was unreliable. In general, there was a greater range of variance in the College of American Pathologists testing results. These latter results are based on laboratory testing and are used as a “yardstick” to determine if a laboratory passes or fails that analyte and are considered a “gold standard.” An extract, which resulted from a method that avoided the washing step, was compared among five laboratories. Very good precision resulted, indicating that the varied washing steps used by the laboratories in a recent review were probably the source of much variance. Analysis of hair analysis seemed to yield important information in several historical or forensic cases involving Ludwig von Beethoven, Napoleon Bonaparte, ex-US-presidents Zachary Taylor and Andrew Jackson, and Charles Hall, an Arctic explorer. Several elements that were reviewed, including arsenic, cadmium, cobalt, germanium, lead, lithium, manganese, mercury, nickel, and thallium, showed relationships between body burden, dosage, and exposure or toxicity. Evidence of toxicity could not be found by measuring hair aluminum or vanadium. Chromium, selenium, and zinc seemed to have nutritional value. Ratios of hair elements with clinical importance could not be found.     

Nuclear localization of profilin during the cell cycle in Tradescantia virginiana stamen hair cells

Summary. The localization of the actin-monomer-binding protein profilin during the cell cycle of living Tradescantia virginiana stamen hair cells has been studied by microinjection of a fluorescently labeled analog of the protein. In contrast to previously published studies performed on chemically fixed animal cells, we do not find a specific colocalization of profilin with actin filament arrays. Our results show that, besides a general cytoplasmic distribution, profilin specifically accumulates in the nucleus in interphase and prophase cells. This nuclear localization was confirmed by means of electron microscopic immunolocalization of endogenous profilin (in Gibasis scheldiana stamen hair cells). During mitosis, as the nuclear envelope and nuclear matrix break down at the onset of prometaphase, the nuclear profilin redistributes equally into the accessible volume (cytosol) of the cell. During metaphase and anaphase no specific localization of profilin can be observed associated with the mitotic apparatus. However, during telophase, as nuclear envelopes and nuclear matrices re-form and the sister chromatids start to decondense, a subset of the microinjected profilin again localizes to the nucleus. No accumulation of profilin could be observed in the phragmoplast, where a distinct array of actin filaments exists. The function of profilin in the nucleus remains unclear.Correspondence and reprints: Department of Biology, 221 Morrill Science Center II, University of Massachusetts, Amherst, MA 01003, U.S.A.Received September 30, 2002; accepted February 12, 2003 Published online September 23, 2003     

The dynamin-like protein ADL1C is essential for plasma membrane maintenance during pollen maturation

Dynamin-related GTPases regulate a wide variety of dynamic membrane processes in eukaryotes. Here, we investigated the function of ADL1C, a member of the Arabidopsis 68 kDa dynamin-like protein family. Analysis of heterozygous adl1C-1 indicates that the mutation specifically affects post-meiotic male gametogenesis. Fifty percent of the mature pollen from heterozygous adl1C-1 androecia are shriveled and fail to germinate in vitro. During microspore maturation, adl1C-1 pollen grains display defects in the plasma membrane and intine morphology, suggesting that ADL1C is essential for the formation and maintenance of the pollen cell surface and viability during desiccation. Consistent with a role in cell-surface dynamics, immunofluorescence microscopy indicates that ADL1C is localized to the cell plate of dividing somatic cells and to the tip of expanding root hairs. We propose that ADL1C functions in plasma membrane dynamics, and we discuss the role of the ADL1 family in plant growth and development.     

Highly reliable genetic identification of individual northern hairy-nosed wombats from single remotely collected hairs: a feasible censusing method

The highly endangered northern hairy-nosed wombat (Lasiorhinus krefftii) is extremely difficult to study in the wild, and its numbers correspondingly difficult to estimate. Disturbance to the animals caused by trapping and radio-tracking may not only constitute an excessive risk to the population's viability, but may also yield biased data. The results of a pilot study are presented, which clearly show noninvasive genotyping to be a highly feasible and reliable alternative censusing method for L. krefftii. The protocol can identify individual wombats from single hairs collected remotely at burrow entrances, using: (i) a panel of microsatellite markers giving individual-specific genotypes; and (ii) a Y-linked sexing marker in combination with a single-copy X-linked amplification control. Using just the eight most variable microsatellites (of 20 available), only one in 200 pairs of full-sibs are predicted to share the same genotype. From 12 wombat hair samples collected on tape suspended over burrow entrances, three known female, two known male and an unknown wombat of each sex were identified. The approach will allow censusing of individuals that evade capture, and will also reveal some otherwise problematic aspects of the behaviour of this elusive animal.