Semidominant Trait Research Articles

Simpson-Golabi-Behmel syndrome.

The Simpson-Golabi-Behmel syndrome (SGBS; OMIM 312870) is an overgrowth/multiple congenital anomalies/dysplasia condition, inherited as an X-linked semi-dominant trait, with variable expressivity in males and reduced penetrance and expressivity in females. The clinical spectrum is broad, ranging from mild manifestations in both males and females to multiple malformations and neonatal death in the more severely affected cases. An increased risk of neoplasia is reported, requiring periodical surveillance. Intellectual development is normal in most cases. SGBS is caused by a loss-of-function mutation of the GPC3 gene, either deletions or point mutations, distributed all over the gene. Notably, GPC3 deletion/point mutations are not found in a significant proportion of clinically diagnosed SGBS cases. The protein product GPC3 is a glypican functioning as a receptor for Hh at the cell surface, involved in the Hh-Ptc-Smo signaling pathway, a regulator of cellular growth.

Benzobicyclon efficacy is affected by plant growth stage, HPPD Inhibitor Sensitive 1 (HIS1) expression and zygosity in weedy rice (Oryza sativa)

AbstractBenzobicyclon tolerance in rice (Oryza sativa L.) is dependent on the presence of a functional HIS1 gene, but the level of sensitivity might vary among different cultivars. Greenhouse, laboratory, and field experiments were conducted to further explore the role of HIS1 in cultivated rice tolerance and to exploit findings toward optimizing benzobicyclon activity on weedy rice (unwanted rice; Oryza sativa L.). In a heredity experiment, benzobicyclon tolerance was confirmed to be a semidominant trait conferred by HIS1 based on the intermediate response (ED50 values) of HIS1 heterozygous F1 plants. The spatial–temporal expression of HIS1 was next studied in tissue types (blades, sheaths, and whorls) across tolerant cultivars (‘Roy J’, ‘Diamond’, ‘LaKast’, ‘CLXL745’, and ‘XL753’) and growth stages (2- to 3- compared with 5- to 6-leaf). The relative expression of HIS1 was tissue specific and highest in whorls, followed by blades and then sheaths. Minimal differences in expression across cultivars and growth stages were observed. Furthermore, HIS1 was not largely upregulated at 6 h after benzobicyclon treatment. In the same experiment, cultivar tolerance to benzobicyclon at the label rate of 371 g ha−1 was found to be growth stage dependent. Plant growth was reduced by ∼35% when rice plants were at the 2- to 3- compared with 5- to 6-leaf growth stages. These results show that differences in benzobicyclon tolerance among HIS1 homozygous cultivars is likely not directly correlated with the expression of HIS1. In this research a model was proposed and supported by a field proof of concept study, indicating benzobicyclon efficacy on weedy rice is a function of HIS1 zygosity by growth stage at application. Prior research indicates HIS1 is the dominant allele in weedy rice accessions in Arkansas, and thus, based on our model, benzobicyclon should be applied to weedy rice with ≤2 leaves for suppression.

Peridermal fruit skin formation in Actinidia sp. (kiwifruit) is associated with genetic loci controlling russeting and cuticle formation

BackgroundThe skin (exocarp) of fleshy fruit is hugely diverse across species. Most fruit types have a live epidermal skin covered by a layer of cuticle made up of cutin while a few create an outermost layer of dead cells (peridermal layer).ResultsIn this study we undertook crosses between epidermal and peridermal skinned kiwifruit, and showed that epidermal skin is a semi-dominant trait. Furthermore, backcrossing these epidermal skinned hybrids to a peridermal skinned fruit created a diverse range of phenotypes ranging from epidermal skinned fruit, through fruit with varying degrees of patches of periderm (russeting), to fruit with a complete periderm. Quantitative trait locus (QTL) analysis of this population suggested that periderm formation was associated with four loci. These QTLs were aligned either to ones associated with russet formation on chromosome 19 and 24, or cuticle integrity and coverage located on chromosomes 3, 11 and 24.ConclusionFrom the segregation of skin type and QTL analysis, it appears that skin development in kiwifruit is controlled by two competing factors, cuticle strength and propensity to russet. A strong cuticle will inhibit russeting while a strong propensity to russet can create a continuous dead skinned periderm.

A copy number variant is associated with a spectrum of pigmentation patterns in the rock pigeon (Columba livia).

Rock pigeons (Columba livia) display an extraordinary array of pigment pattern variation. One such pattern, Almond, is characterized by a variegated patchwork of plumage colors that are distributed in an apparently random manner. Almond is a sex-linked, semi-dominant trait controlled by the classical Stipper (St) locus. Heterozygous males (ZStZ+ sex chromosomes) and hemizygous Almond females (ZStW) are favored by breeders for their attractive plumage. In contrast, homozygous Almond males (ZStZSt) develop severe eye defects and often lack plumage pigmentation, suggesting that higher dosage of the mutant allele is deleterious. To determine the molecular basis of Almond, we compared the genomes of Almond pigeons to non-Almond pigeons and identified a candidate St locus on the Z chromosome. We found a copy number variant (CNV) within the differentiated region that captures complete or partial coding sequences of four genes, including the melanosome maturation gene Mlana. We did not find fixed coding changes in genes within the CNV, but all genes are misexpressed in regenerating feather bud collar cells of Almond birds. Notably, six other alleles at the St locus are associated with depigmentation phenotypes, and all exhibit expansion of the same CNV. Structural variation at St is linked to diversity in plumage pigmentation and gene expression, and thus provides a potential mode of rapid phenotypic evolution in pigeons.

A loss-of-function allele of a TAC1-like gene (SlTAC1) located on tomato chromosome 10 is a candidate for the Erectoid leaf (Erl) mutation

The genetic basis of an erectoid leaf phenotype was investigated in distinct tomato breeding populations, including one derived from Solanum lycopersicum ‘LT05’ (with the erectoid leaf phenotype and uniform ripening, genotype uu) × S. pimpinellifollium ‘TO-937’ (with the wild-type leaf phenotype and green fruit shoulder, genotype UU). The erectoid leaf phenotype was inherited as a semi-dominant trait and it co-segregated with the u allele of gene SlGLK2 (Solyc10g008160). This genomic location coincides with a previously described semi-dominant mutation named as Erectoid leaf (Erl). The genomes of ‘LT05’, ‘TO-937’, and three other unrelated accessions (with the wild-type Erl+ allele) were resequenced with the aim of identifying candidate genes. Comparative genomic analyses, including the reference genome ‘Heinz 1706’ (Erl+ allele), identified an Erectoid leaf-specific single nucleotide polymorphism (SNP) in the gene Solyc10g009320. This SNP caused a change of a glutamine codon (present in all the wild-type genomes) to a TAA (= ochre stop-codon) in the Erl allele, resulting in a smaller version of the predicted mutant protein (221 vs. 279 amino acids). Solyc10g009320, previously annotated as an ‘unknown protein’, was identified as a TILLER ANGLE CONTROL1-like gene. Linkage between the Erl and Solyc10g009320 was confirmed via Sanger sequencing of the PCR amplicons of the two variant alleles. No recombinants were detected in 265 F2 individuals. Contrasting S7 near-isogenic lines were also homozygous for each of the alternate alleles, reinforcing Solyc10g009320 as a strong Erl candidate gene and opening the possibility for fine-tuning manipulation of tomato architecture in breeding programs.

Length variations within the Merle retrotransposon of canine PMEL: correlating genotype with phenotype

BackgroundThe antisense insertion of a canine short interspersed element (SINEC_Cf) in the pigmentation gene PMEL (or SILV) causes a coat pattern phenotype in dogs termed merle. Merle is a semi-dominant trait characterized by patches of full pigmentation on a diluted background. The oligo(dT) tract of the Merle retrotransposon is long and uninterrupted and is prone to dramatic truncation. Phenotypically wild-type individuals carrying shorter oligo(dT) lengths of the Merle allele have been previously described and termed cryptic merles. Two additional coat patterns, dilute merle (uniform, steely-grey coat) and harlequin merle (white background with black patches), also appear in breeds segregating the Merle allele.ResultsSequencing of all PMEL exons in a dilute and a harlequin merle reveals that variation exists solely within the oligo(dT) tract of the SINEC_Cf insertion. In fragment analyses from 259 dogs heterozygous for Merle, we observed a spectrum of oligo(dT) lengths spanning 25 to 105 base pairs (bp), with ranges that correspond to the four varieties of the merle phenotype: cryptic (25–55 bp), dilute (66–74 bp), standard (78–86 bp), and harlequin (81–105 bp). Somatic contractions of the oligo(dT) were observed in 43% of standard and 51% of harlequin merle dogs. A small proportion (4.6%) of the study cohort inherited de novo contractions or expansions of the Merle allele that resulted in dilute or harlequin coat patterns, respectively.ConclusionsThe phenotypic consequence of the Merle SINE insertion directly depends upon oligo(dT) length. In transcription, we propose that the use of an alternative splice site increases with oligo(dT) length, resulting in insufficient PMEL and a pigment dilution spectrum, from dark grey to complete hypopigmentation. We further propose that during replication, contractions and expansions increase in frequency with oligo(dT) length, causing coat variegation (somatic events in melanocytes) and the spontaneous appearance of varieties of the merle phenotype (germline events).

Mode of inheritance of Indoxacarb resistance in diamondback moth, Plutella xylostella (L.) and cross resistance to different groups of pesticides

The development of insecticidal resistance in diamondback moth (DBM) Plutella xylostella has immediate implications for its management. In this study, we examined the mode of inheritance of Indoxacarb resistance in P. xylostella. The indoxacarb-resistant strain (Px-R) was obtained through continuous laboratory selection with increasing doses of indoxacarb in each generation. At the 14th generation of selection, the resistance ratio of Px-R strains was 238 over the susceptible strain (Px-S). The mode of inheritance to Indoxacarb in P. xylostella was examined performing standard reciprocal crosses between Px-R and Px-S and response of Px-R, Px-S and F1 hybrid progenies to Indoxacarb through leaf dip bioassay. The degree of dominance (D) and heritability (h) of F1 hybrid progeny ranged from −0.001 to 0.0012 and 0.499 to 0.506, respectively. The Indoxacarb resistance was appeared to be autosomal and inherited as a semi-dominant trait. The Px-R strain of P. xylostella showed little cross resistance to cypermethrin and there was no cross resistance to other pesticides viz., chlorpyrifos, spinosad, karanjin, xentari (Bta-Cry1C) and MVP-II (Cry1Ac). Since the Indoxacarb resistance inherited as a semi-dominant trait in P. xylostella, the sub lethal doses and frequent use of indoxacarb should be avoided for the management of P. xylostella. Moreover, Px-R of P. xylostella showed positive cross resistance to synthetic pyrethroids (cypemethrin), therefore indoxacarb and synthetic pyrethroids should not be recommended together for management of P. xylostella.

A novel mutation in the thyroglobulin gene that causes goiter and dwarfism in Wistar Hannover GALAS rats

Outbred stocks of rats have been used extensively in biomedical, pharmaceutical and/or toxicological studies as a model of genetically heterogeneous human populations. One of such stocks is the Wistar Hannover GALAS rat. However, the colony of Wistar Hannover GALAS rat has been suspected of keeping a problematic mutation that manifests two distinct spontaneous abnormalities, goiter and dwarfism, which often confuses study results. We have successfully identified the responsible mutation, a guanine to thymine transversion at the acceptor site (3′ end) of intron 6 in the thyroglobulin (Tg) gene (Tgc.749−1G>T), that induces a complete missing of exon 7 from the whole Tg transcript by mating experiments and subsequent molecular analyses. The following observations confirmed that Tgc.749−1G>T/Tgc.749−1G>T homozygotes manifested both dwarfism and goiter, while Tgc.749−1G>T/+ heterozygotes had only a goiter with normal appearance, suggesting that the mutant phenotypes inherit as an autosomal semi-dominant trait. The mutant phenotypes, goiter and dwarfism, mimicked those caused by typical endocrine disrupters attacking the thyroid. Hence a simple and reliable diagnostic methodology has been developed for genomic DNA-based genotyping of animals. The diagnostic methodology reported here would allow users of Wistar Hannover GALAS rats to evaluate their study results precisely by carefully interpreting the data obtained from Tgc.749−1G>T/+ heterozygotes having externally undetectable thyroidal lesions.

Physiological and genetic analysis of CO2-induced breakdown of self-incompatibility in Brassica rapa

Self-incompatibility (SI) of the Brassicaceae family can be overcome by CO2 gas treatment. This method has been used for decades as an effective means to obtain a large amount of inbred seeds which can then be used for F1 hybrid seed production; however, the molecular mechanism by which CO2 alters the SI pathway has not been elucidated. In this study, to obtain new insights into the mechanism of CO2-induced SI breakdown, the focus was on two inbred lines of Brassica rapa (syn. campestris) with different CO2 sensitivity. Physiological examination using X-ray microanalysis suggested that SI breakdown in the CO2-sensitive line was accompanied by a significant accumulation of calcium at the pollen–stigma interface. Pre-treatment of pollen or pistil with CO2 gas before pollination showed no effect on the SI reaction, suggesting that some physiological process after pollination is necessary for SI to be overcome. Genetic analyses using F1 progeny of a CO2-sensitive×CO2-insensitive cross suggested that CO2 sensitivity is a semi-dominant trait in these lines. Analysis of F2 progeny suggested that CO2 sensitivity could be a quantitative trait, which is controlled by more than one gene. Quantitative trait locus (QTL) analyses identified two major loci, BrSIO1 and BrSIO2, which work additively in overcoming SI during CO2 treatment. No QTL was detected at the loci previously shown to affect SI stability, suggesting that CO2 sensitivity is determined by novel genes. The QTL data presented here should be useful for determining the responsible genes, and for the marker-assisted selection of desirable parental lines with stable but CO2-sensitive SI in F1 hybrid breeding.

A Novel ENU-Induced Intronic Mutation of Ank1 Causing Quantitative Defect of Ankyrin-1 Models Hemolytic Hereditary Spherocytosis in Mouse

AbstractAbstract 989The ability of red blood cells (RBCs) to maintain the surface area and deformability is vital for their survival. The maintenance of membrane surface is dependent upon the strong cohesion between the lipid bilayer and the skeletal network, achieved by vertical linkages between transmembrane proteins and spectrin tetramers. Mutations causing functional deficiencies in these proteins have been identified in various hemolytic anemias. Here we reported a mild hereditary spherocytosis (HS) and hemolytic anemia phenotype in mouse, named hema6, induced by N-ethyl-N-nitrosourea (ENU) mutagenesis. Hema6 phenotype is transmitted as a semidominant trait as heterozygous mice are less severely affected than homozygotes. The causal mutation was traced to a single nucleotide transition in the deep intronic region of intron 13 of gene Ank1, encoding the anchorage protein ankyrin-1 in RBC. In vitro minigene assay revealed two abnormally spliced transcripts in addition to wild-type mRNA. The wild-type Ank1 transcript was detected in the homozygous mutant mouse with 30% reduction in expression level compared to that in wild type mouse. The aberrant transcripts presumably encoded a 509 amino acids protein, which lacks beta-spectrin binding domain and C-terminal regulatory region. The truncated protein was not detected by western blotting using currently available antibodies against full-length ankyrin-1 in homozygous hema6 erythrocyte ghosts, whereas the wild-type Ankyrin-1 are present with reduced quantity. Employing biochemical and cell biology assays, we characterized the mechanism by which Ank1hema6 mutation causes hemolytic hereditary spherocytosis in mouse. Hema6 strain provides a novel tool to study ankyrin-1 and its pathogenesis role in HS. Disclosures:No relevant conflicts of interest to declare.

Inheritance and relative dominance, expressed as toxicity response and delayed development, of phosphine resistance in immature stages of Rhyzopertha dominica (F.) (Coleoptera: Bostrichidae)

Fumigation of stored grain with phosphine (PH3) is used widely to control the lesser grain borer Rhyzopertha dominica. However, development of high level resistance to phosphine in this species threatens control. Effective resistance management relies on knowledge of the expression of resistance in relation to dosage at all life stages. Therefore, we determined the mode of inheritance of phosphine resistance and strength of the resistance phenotype at each developmental stage. We achieved this by comparing mortality and developmental delay between a strongly resistant strain (R-strain), a susceptible strain (S-strain) and their F1 progenies. Resistance was a maternally inherited, semi-dominant trait in the egg stage but was inherited as an autosomal, incompletely recessive trait in larvae and pupae. The rank order of developmental tolerance in both the sensitive and resistant strains was eggs > pupae > larvae. Comparison of published values for the response of adult R. dominica relative to our results from immature stages reveals that the adult stage of the S-strain is more sensitive to phosphine than are larvae. This situation is reversed in the R-strain as the adult stage is much more resistant to phosphine than even the most tolerant immature stage. Phosphine resistance factors at LC50 were eggs 400×, larvae 87× and pupae 181× with respect to reference susceptible strain (S-strain) adults indicating that tolerance conferred by a particular immature stage neither strongly nor reliably interacts with the genetic resistance element. Developmental delay relative to unfumigated control insects was observed in 93% of resistant pupae, 86% of resistant larvae and 41% of resistant eggs. Increased delay in development and the toxicity response to phosphine exposure were both incompletely recessive. We show that resistance to phosphine has pleiotropic effects and that the expression of these effects varies with genotype and throughout the life history of the insect.

ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance type

The COL2A1 gene encodes the α1(II) chain of the homotrimeric type II collagen, the most abundant protein in cartilage. In humans, COL2A1 mutations create many clinical phenotypes collectively termed type II collagenopathies; however, the genetic basis of the phenotypic diversity is not well elucidated. Therefore, animal models corresponding to multiple type II collagenopathies are required. In this study we identified a novel Col2a1 missense mutation--c.44406A>C (p.D1469A)--produced by large-scale N-ethyl-N-nitrosourea (ENU) mutagenesis in a mouse line. This mutation was located in the C-propeptide coding region of Col2a1 and in the positions corresponding to a human COL2A1 mutation responsible for platyspondylic lethal skeletal dysplasia, Torrance type (PLSD-T). The phenotype was inherited as a semidominant trait. The heterozygotes were mildly but significantly smaller than wild-type mice. The homozygotes exhibited lethal skeletal dysplasias, including extremely short limbs, severe spondylar dysplasia, severe pelvic hypoplasia, and brachydactyly. As expected, these skeletal defects in the homozygotes were similar to those in PLSD-T patients. The secretion of the mutant proteins into the extracellular space was disrupted, accompanied by abnormally expanded rough endoplasmic reticulum (ER) and upregulation of ER stress-related genes, such as Grp94 and Chop, in chondrocytes. These findings suggested that the accumulation of mutant type II collagen in the ER and subsequent induction of ER stress are involved, at least in part in the PLSD-T-like phenotypes of the mutants. This mutant should serve as a good model for studying PLSD-T pathogenesis and the mechanisms that create the great diversity of type II collagenopathies.

Semi‐dominant mutations in the CC‐NB‐LRR‐type R gene, NLS1, lead to constitutive activation of defense responses in rice

In this study, we characterized the semi-dominant mutant nls1-1D (necrotic leaf sheath 1) of rice, which displays spontaneous lesions, specifically on leaf sheaths, with a developmental pattern. nls1-1D plants also exhibited constitutively activated defense responses, including extensive cell death, excess hydrogen peroxide and salicylic acid (SA) accumulation, up-regulated expressions of pathogenesis-related genes, and enhanced resistance to bacterial pathogens. Map-based cloning revealed that NLS1 encodes a typical CC-NB-LRR-type protein in rice. The nls1-1D mutation causes a S367N substitution in the non-conserved region close to the GLPL motif of the NB domain. An adjacent S366T substitution was found in another semi-dominant mutant, nls1-2D, which exhibited the same phenotypes as nls1-1D. Combined analyses of wild-type plants transformed with the mutant NLS1 gene (nls1-1D), NLS1 RNAi and over-expression transgenic lines showed that nls1-2D is allelic to nls1-1D, and both mutations may cause constitutive auto-activation of the NLS1 R protein. Further real-time PCR analysis revealed that NLS1 is expressed constitutively in an age-dependent manner. In addition, because the morphology and constitutive defense responses of nls1-1D were not suppressed by blocking SA or NPR1 transcript accumulation, we suggest that NLS1 mediates both SA and NPR1-independent defense signaling pathways in rice.

A mutation in the cytosolic O-acetylserine (thiol) lyase induces a genome-dependent early leaf death phenotype in Arabidopsis

BackgroundCysteine is a component in organic compounds including glutathione that have been implicated in the adaptation of plants to stresses. O-acetylserine (thiol) lyase (OAS-TL) catalyses the final step of cysteine biosynthesis. OAS-TL enzyme isoforms are localised in the cytoplasm, the plastids and mitochondria but the contribution of individual OAS-TL isoforms to plant sulphur metabolism has not yet been fully clarified.ResultsThe seedling lethal phenotype of the Arabidopsis onset of leaf death3-1 (old3-1) mutant is due to a point mutation in the OAS-A1 gene, encoding the cytosolic OAS-TL. The mutation causes a single amino acid substitution from Gly162 to Glu162, abolishing old3-1 OAS-TL activity in vitro. The old3-1 mutation segregates as a monogenic semi-dominant trait when backcrossed to its wild type accession Landsberg erecta (Ler-0) and the Di-2 accession. Consistent with its semi-dominant behaviour, wild type Ler-0 plants transformed with the mutated old3-1 gene, displayed the early leaf death phenotype. However, the old3-1 mutation segregates in an 11:4:1 (wild type: semi-dominant: mutant) ratio when backcrossed to the Colombia-0 and Wassilewskija accessions. Thus, the early leaf death phenotype depends on two semi-dominant loci. The second locus that determines the old3-1 early leaf death phenotype is referred to as odd-ler (for old3 determinant in the Ler accession) and is located on chromosome 3. The early leaf death phenotype is temperature dependent and is associated with increased expression of defence-response and oxidative-stress marker genes. Independent of the presence of the odd-ler gene, OAS-A1 is involved in maintaining sulphur and thiol levels and is required for resistance against cadmium stress.ConclusionsThe cytosolic OAS-TL is involved in maintaining organic sulphur levels. The old3-1 mutation causes genome-dependent and independent phenotypes and uncovers a novel function for the mutated OAS-TL in cell death regulation.

Inheritance of Cry1Ac resistance and associated biological traits in the cotton bollworm, Helicoverpa armigera (Lepidoptera: Noctuidae)

The analysis of reciprocal genetic crosses between resistant Helicoverpa armigera strain (BH-R) (227.9-fold) with susceptible Vadodara (VA-S) strain showed dominance ( h) of 0.65–0.89 and degree of dominance ( D) of 0.299–0.782 suggesting Cry1Ac resistance as a semi-dominant trait. The D and h values of F 1 hybrids of female resistant parent were higher than female susceptible parent, showing maternally enhanced dominance of Cry1Ac resistance. The progeny of F 2 crosses, backcrosses of F 1 hybrid with resistant BH-R parent did not differ significantly in respect of mortality response with resistant parent except for backcross with female BH-R and male of F 1 (BH-R × VA-S) cross, suggesting dominant inheritance of Cry1Ac resistance. Evaluation of some biological attributes showed that larval and pupal periods of progenies of reciprocal F 1 crosses, backcrosses and F 2 crosses were either at par with resistant parent or lower than susceptible parent on treated diet (0.01 μg/g). The susceptible strain performed better in terms of pupation and adult formation than the resistant strain on untreated diet. In many backcrosses and F 2 crosses, Cry1Ac resistance favored emergence of more females than males on untreated diet. The normal larval period and the body weight (normal larval growth) were the dominant traits associated with susceptible strain as contrast to longer larval period and the lower body weight (slow growth) associated with resistance trait. Further, inheritance of larval period in F 2 and backcross progeny suggested existence of a major resistant gene or a set of tightly linked loci associated with Cry1Ac sensitivity.

Genetic and Physiological Characterization of the Arlequin Insertional Mutant Reveals a Key Regulator of Reproductive Development in Tomato

The genetic and phenotypic characterization of a new tomato (Solanum lycopersicum) insertional mutant, Arlequin (Alq) is reported. Alq mutant plants were affected in reproductive development and their sepals were homeotically converted into fleshy fruit-like organs. Molecular analysis demonstrated that a single copy of T-DNA was present in the mutant genome while genetic analysis confirmed that the mutant phenotype co-segregated with the T-DNA insertion and was inherited as a monogenic semi-dominant trait. The histological and scanning electron microscope analyses revealed cell identity changes in both external and internal tissues of Alq sepals. Flowers developed by Alq homozygous plants showed a severe mutant phenotype, since after fruit set, not only did the sepals become succulent but they also followed a ripening pattern similar to that of normal fruits. From a metabolic viewpoint, Alq sepals also behaved like a fruit, as they acquired the properties of a sink that acted alternatively and independently to the fruit. In fact, expression of regulatory genes controlling tomato fruit ripening was detected in Alq sepals at similar levels to those observed in mature fruits. Furthermore, the Alq mutation inhibited the development of the abscission zone in tomato flowers indicating that the JOINTLESS gene is regulated by ALQ. Results from the genetic and developmental characterization of the Alq tomato mutant suggest that the ALQ gene participates in the regulatory pathway controlling fruit ripening of tomato.

Blue Light‐induced Chloroplast Avoidance and Phototropic Responses Exhibit Distinct Dose Dependency of PHOTOTROPIN2 in Arabidopsis thaliana

PHOTOTROPIN2 (PHOT2) is a unique photoreceptor involved in chloroplast avoidance movement and also regulates blue light (BL) responses, such as phototropism and leaf flattening, together with PHOTOTROPIN1 (PHOT1) in Arabidopsis thaliana. Previous work showed that the defect of the phot2-1 mutant in chloroplast avoidance movement was a semidominant trait. In the present study, we examined PHOT2 dose dependency of BL responses using the phot1-5 phot2-1 double mutant expressing an AtPHOT2-GFP (P2G) fusion protein. Chloroplast avoidance and phototropic responses of P2G transgenic lines were enhanced in a manner dependent on the P2G levels, whereas the leaf flattening phenotype was simply complemented by P2G equivalent to the wild type (WT) PHOT2 level. The chloroplast avoidance velocity of P2G transgenic lines exhibited enhanced sensitivity to BL in comparison with WT. In contrast, the defect of the phototropic response was rescued by P2G expression equivalent only to the response of the phot1 mutant. These results collectively indicate that each BL response has distinct threshold levels of PHOT2 requirement.

Fine mapping of the grain chalkiness QTL qPGWC-7 in rice (Oryza sativa L.)

Chalkiness of rice grain is an important quality component of rice, as it has a profound influence on eating and milling qualities. We has determined the inheritance of percentage of grain with chalkiness (PGWC) using a set of chromosome segment substitution lines, made from a cross between cv. PA64s and cv. 9311. Two loci controlling PGWC, designated as qPGWC-6 and qPGWC-7, were located on, respectively, chromosomes 6 and 7. Comparisons were made between C-51 (a CSSL harbouring qPGWC-7 and having a chalky endosperm) and the recurrent parent 9311 (translucent endosperm) to characterize the physical and chemical differences between translucent and chalky endosperm. Unlike the translucent endosperm, the chalky endosperm contains loosely packed starch granules, and there were significant difference between C-51 and 9311 for amylopectin structure and degree of crystallinity, but not for either amylose content or starch viscosity. Segregation analysis of the F2 population from the cross between C-51 and 9311 showed PGWC is a semi-dominant trait, controlled by single nuclear gene. A large F2 population was constructed from the cross C51x9311, and used for the fine mapping of qPGWC-7, which was located to a 44-kb DNA fragment, containing thirteen predicted genes. This result provides a springboard for the map-based cloning of qPGWC-7 and allowed for marker-assisted selection for endosperm texture.

A Mutation in Hairless Dogs Implicates FOXI3 in Ectodermal Development

Mexican and Peruvian hairless dogs and Chinese crested dogs are characterized by missing hair and teeth, a phenotype termed canine ectodermal dysplasia (CED). CED is inherited as a monogenic autosomal semidominant trait. With genomewide association analysis we mapped the CED mutation to a 102-kilo-base pair interval on chromosome 17. The associated interval contains a previously uncharacterized member of the forkhead box transcription factor family (FOXI3), which is specifically expressed in developing hair and teeth. Mutation analysis revealed a frameshift mutation within the FOXI3 coding sequence in hairless dogs. Thus, we have identified FOXI3 as a regulator of ectodermal development.

Genetically regulated epigenetic transcriptional activation of retrotransposon insertion confers mouse dactylaplasia phenotype.

Dactylaplasia, characterized by missing central digital rays, is an inherited mouse limb malformation that depends on two genetic loci. The first locus, Dac, is an insertional mutation around the dactylin gene that is inherited as a semidominant trait. The second locus is an unlinked modifier, mdac/Mdac, that is polymorphic among inbred strains. Mdac dominantly suppresses the dactylaplasia phenotype in mice carrying Dac. However, little is known about either locus or the nature of their interaction. Here we show that Dac is a LTR retrotransposon insertion caused by the type D mouse endogenous provirus element (MusD). This insertion exhibits different epigenetic states and spatiotemporally expresses depending on the mdac/Mdac modifier background. In dactylaplasia mutants (Dac/+ mdac/mdac), the LTRs of the insertion contained unmethylated CpGs and active chromatin. Furthermore, MusD elements expressed ectopically at the apical ectodermal ridge of limb buds, accompanying the dactylaplasia phenotype. On the other hand, in Dac mutants carrying Mdac (Dac/+ Mdac/mdac), the 5' LTR of the insertion was heavily methylated and enriched with inactive chromatin, correlating with inhibition of the dactylaplasia phenotype. Ectopic expression was not observed in the presence of Mdac, which we refined to a 9.4-Mb region on mouse chromosome 13. We report a pathogenic mutation caused by MusD. Our findings indicate that ectopic expression from the MusD insertion correlates with the dactylaplasia phenotype and that Mdac acts as a defensive factor to protect the host genome from pathogenic MusD insertions.