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Loss-of-function Alleles (loss-of-function + allele)
Selected AbstractsThe CLAVATA1-related BAM1, BAM2 and BAM3 receptor kinase-like proteins are required for meristem function in ArabidopsisTHE PLANT JOURNAL, Issue 1 2006Brody J. DeYoung Summary Organ formation at shoot and flower meristems in plants requires the maintenance of a population of centrally located stem cells and the differentiation of peripherally located daughter cells. The CLAVATA (CLV) gene products in Arabidopsis, including the CLV1 receptor-kinase, regulate this process by promoting the differentiation of stem cells on the meristem flanks. Here, we have analyzed the developmental roles of the CLV1-related BAM1 (derived from barely any meristem 1), BAM2 and BAM3 receptor-like kinases. Loss-of-function alleles of these receptors lead to phenotypes consistent with the loss of stem cells at the shoot and flower meristem, suggesting that their developmental role is opposite to that of CLV1. These closely related receptors are further distinguished from CLV1, whose expression and function is highly specific, by having broad expression patterns and multiple developmental roles. These include a requirement for BAM1, BAM2 and BAM3 in the development of high-ordered vascular strands within the leaf and a correlated control of leaf shape, size and symmetry. In addition, BAM1, BAM2 and BAM3 are required for male gametophyte development, as well as ovule specification and function. Significantly, the differing roles of CLV1 and BAM receptors in meristem and organ development are largely driven by differences in expression patterns. [source] Evidence for canalization of Distal-less function in the leg of Drosophila melanogasterEVOLUTION AND DEVELOPMENT, Issue 2 2005Ian Dworkin Summary A considerable body of theory pertaining to the evolution of canalization has emerged recently, yet there have been few empirical investigations of their predictions. To address this, patterns of canalization and trait correlation were investigated under the individual and joint effects of the introgression of a loss-of-function allele of the Distal-less gene and high-temperature stress on a panel of iso-female lines. Variation was examined for number of sex comb teeth and the length of the basi-tarsus on the pro-thoracic leg of male Drosophila melanogaster. I demonstrate that whereas there is evidence for trait canalization, there is no evidence to support the hypothesis of the evolution of genetic canalization as a response to microenvironmental canalization. Furthermore, I demonstrate that although there are genetic correlations between these traits, there is no association between their measures of canalization. I discuss the prospects of the evolutionary lability of the Distal-less gene within the context of changes in genetic variation and covariation. [source] Microdeletions involving the SCN1A gene may be common in SCN1A -mutation-negative SMEI patients,HUMAN MUTATION, Issue 9 2006Arvid Suls Abstract Severe myoclonic epilepsy of infancy (SMEI) or Dravet syndrome is a rare epilepsy syndrome. In 30 to 70% of SMEI patients, truncating and missense mutations in the neuronal voltage-gated sodium-channel ,-subunit gene (SCN1A) have been identified. The majority of patients have truncating mutations that are predicted to be loss-of-function alleles. Because mutation detection studies use PCR-based sequencing or conformation sensitive gel electrophoresis (CSGE), microdeletions, which are also predicted to be loss-of-function alleles, can easily escape detection. We selected 11 SMEI patients with or without additional features who had no SCN1A mutation detectable with sequencing analysis. In addition, none of the patients was heterozygous for any of the SNPs in SCN1A, indicating that they were either homozygous for all SNPs or hemizygous due to a microdeletion of the gene. We subsequently analyzed these patients for the presence of microdeletions in SCN1A using a quantitative PCR method named multiplex amplicon quantification (MAQ), and observed three patients missing one copy of the SCN1A gene. All three microdeletions were confirmed by fluorescence in situ hybridization (FISH). These findings demonstrate that a substantial percentage of SCN1A -mutation-negative SMEI patients with or without additional features carry a chromosomal microdeletion comprising the SCN1A gene and that haploinsufficiency of the SCN1A gene is a cause of SMEI. Hum Mutat 27(9), 914,920, 2006. © 2006 Wiley-Liss, Inc. [source] A subtilisin-like serine protease essential for mucilage release from Arabidopsis seed coatsTHE PLANT JOURNAL, Issue 3 2008Carsten Rautengarten Summary During Arabidopsis seed development large quantities of mucilage, composed of pectins, are deposited into the apoplast underneath the outer wall of the seed coat. Upon imbibition of mature seeds, the stored mucilage expands through hydration and breaks the outer cell wall that encapsulates the whole seed. Mutant seeds carrying loss-of-function alleles of AtSBT1.7 that encodes one of 56 Arabidopsis thaliana subtilisin-like serine proteases (subtilases) do not release mucilage upon hydration. Microscopic analysis of the mutant seed coat revealed no visible structural differences compared with wild-type seeds. Weakening of the outer primary wall using cation chelators triggered mucilage release from the seed coats of mutants. However, in contrast to mature wild-type seeds, the mutant's outer cell walls did not rupture at the radial walls of the seed coat epidermal cells, but instead opened at the chalazal end of the seed, and were released in one piece. In atsbt1.7, the total rhamnose and galacturonic acid contents, representing the backbone of mucilage, remained unchanged compared with wild-type seeds. Thus, extrusion and solubility, but not the initial deposition of mucilage, are affected in atsbt1.7 mutants. AtSBT1.7 is localized in the developing seed coat, indicating a role in testa development or maturation. The altered mode of rupture of the outer seed coat wall and mucilage release indicate that AtSBT1.7 triggers the accumulation, and/or activation, of cell wall modifying enzymes necessary either for the loosening of the outer primary cell wall, or to facilitate swelling of the mucilage, as indicated by elevated pectin methylesterase activity in developing atsbt1.7 mutant seeds. [source] Genetic characterization reveals no role for the reported ABA receptor, GCR2, in ABA control of seed germination and early seedling development in ArabidopsisTHE PLANT JOURNAL, Issue 6 2007Yajun Gao Summary Abscisic acid (ABA) is perceived by several different types of receptors in plant cells. At the cell surface, the ABA signal is proposed to be perceived by GCR2, which mediates ABA responses in seed germination, early seedling development and stomatal movement. GCR2 was also proposed to be a seven-transmembrane (7TM) G-protein-coupled receptor (GPCR). Here we characterize GCR2 and one of its two homologs, GCR2-LIKE 1 (GCL1), in ABA-mediated seed germination and early seedling development in Arabidopsis. We show that loss-of-function mutations in GCL1 did not confer ABA insensitivity. Similarly, we did not observe ABA insensitivity in three independent gcr2 alleles. Furthermore, we generated gcr2 gcl1 double mutants and found that the double mutants still had near wild-type responses to ABA. Consistent with this, we found that the transcription of ABA marker genes was induced by ABA to levels that were comparable in wild type and gcr2 and gcl1 single and double mutants. On the other hand, the loss-of-function alleles of the sole Arabidopsis heterotrimeric G protein , subunit, GPA1, were hypersensitive to ABA in the ABA-inhibition of seed germination and early seedling development, disfavoring a genetic coupling of GCR2 by GPA1. Using multiple robust transmembrane prediction systems, GCR2 was predicted not to be a 7TM protein, a structural hallmark of GPCRs. Taken together, our results do not support the notion that GCR2 is an ABA-signaling GPCR in seed germination and early seedling development. [source] | ||||||||||