Exon-focused genome-wide association study of obsessive-compulsive disorder and shared polygenic risk with schizophrenia.

Common single-nucleotide polymorphisms (SNPs) account for a large proportion of the heritability of obsessive-compulsive disorder (OCD). Co-ocurrence of OCD and schizophrenia is commoner than expected based on their respective prevalences, complicating the clinical management of patients. This study addresses two main objectives: to identify particular genes associated with OCD by SNP-based and gene-based tests; and to test the existence of a polygenic risk shared with schizophrenia. The primary analysis was an exon-focused genome-wide association study of 370 OCD cases and 443 controls from Spain. A polygenic risk model based on the Psychiatric Genetics Consortium schizophrenia data set (PGC-SCZ2) was tested in our OCD data. A polygenic risk model based on our OCD data was tested on previous data of schizophrenia from our group. The most significant association at the gene-based test was found at DNM3 (P=7.9 × 10(-5)), a gene involved in synaptic vesicle endocytosis. The polygenic risk model from PGC-SCZ2 data was strongly associated with disease status in our OCD sample, reaching its most significant value after removal of the major histocompatibility complex region (lowest P=2.3 × 10(-6), explaining 3.7% of the variance). The shared polygenic risk was confirmed in our schizophrenia data. In conclusion, DNM3 may be involved in risk to OCD. The shared polygenic risk between schizophrenia and OCD may be partially responsible for the frequent comorbidity of both disorders, explaining epidemiological data on cross-disorder risk. This common etiology may have clinical implications.

Inducible expression of noggin selectively expands neural progenitors in the adult SVZ.

Multipotent, self-renewing stem cells are present throughout the developing nervous system remaining in discrete regions of the adult brain. In the subventricular zone (SVZ) signaling molecules, including the bone morphogenetic proteins and their secreted inhibitor, noggin appear to play a critical role in controlling neural stem cell (NSC) behavior. To examine the function of this signaling pathway in the intact nervous system, we developed a transgenic mouse model in which noggin expression can be induced specifically in NSC via a nestin-driven reverse tetracycline-controlled transactivator (rtTA). In adult animals, the induction of noggin expression promotes the proliferation of neural progenitors in the SVZ, and shifts the differentiation of B cells (NSC) from mature astrocytes to transit amplifying C cells and oligodendrocyte precursor cells without depleting the NSC population. Noggin expression significantly increases neuronal and oligodendrocyte differentiation both in vivo and in vitro when NSCs are grown as neurospheres. These results demonstrate that noggin/BMP interactions tightly control cell fate in the SVZ.

Cross-sectional anatomy, computed tomography and magnetic resonance imaging of the head of common dolphin (Delphinus delphis) and striped dolphin (Stenella coeruleoalba).

Computed tomography (CT) and low-field magnetic resonance imaging (MRI) were used to scan seven by-caught dolphin cadavers, belonging to two species: four common dolphins (Delphinus delphis) and three striped dolphins (Stenella coeruleoalba). CT and MRI were obtained with the animals in ventral recumbency. After the imaging procedures, six dolphins were frozen at -20°C and sliced in the same position they were examined. Not only CT and MRI scans, but also cross sections of the heads were obtained in three body planes: transverse (slices of 1 cm thickness) in three dolphins, sagittal (5 cm thickness) in two dolphins and dorsal (5 cm thickness) in two dolphins. Relevant anatomical structures were identified and labelled on each cross section, obtaining a comprehensive bi-dimensional topographical anatomy guide of the main features of the common and the striped dolphin head. Furthermore, the anatomical cross sections were compared with their corresponding CT and MRI images, allowing an imaging identification of most of the anatomical features. CT scans produced an excellent definition of the bony and air-filled structures, while MRI allowed us to successfully identify most of the soft tissue structures in the dolphin's head. This paper provides a detailed anatomical description of the head structures of common and striped dolphins and compares anatomical cross sections with CT and MRI scans, becoming a reference guide for the interpretation of imaging studies.

Transfusion dependence development and disease evolution in patients with MDS and del(5q) and without transfusion needs at diagnosis.

Patients with isolated del(5q) and MDS are considered to have good prognosis as compared to other MDS subtypes. Most patients suffered of anemia and 50% of them required transfusions at diagnosis. It is known that for patients with MDS and del(5q) in transfusion dependence(TD), Lenalidomide is the first choice treatment. However, there are no data regarding natural evolution of anemia in patients diagnosed in MDS and del(5q) without TD, factors that may impact on the development of TD or disease outcome. In the present study we have performed a retrospective multicenter analysis on 83 patients with low-int 1 MDS and del(5q) without TD. During the study 61 patients became TD at a median of 1.7 years and only the Hb level 9 g/dL was associated with poorer TFS (p = 0.007) in the multivariate analysis. Among these 61 TD patients, 49 received treatment (19 Lenalidomide). Median follow up was 48 months, estimated OS at 2 and 5 year was 92% and 50% respectively. In the multivariate analysis for OS, platelets <100,000 mm(-3) and Lenalidomide treatment retained the statistical significant impact. LFS at 2 and 5 years was 86% and 73% respectively, and median time to sAML was 8.16 years (CI 95%: 6.05-10.27). In the multivariate analysis only thrombocytopenia retained statistical significance. In summary, this retrospective study show that level of Hb is an important parameter in order to determine the time until TD, it should be also stressed the importance of an early treatment in order to prevent TD development and shorter survival.

Cognitive neurorehabilitation based on interactive video technology.

Cognitive impairment is the main cause of disability in developed societies. New interactive technologies help therapists in neurorehabilitation in order to increase patients' autonomy and quality of life. This work proposes Interactive Video (IV) as a technology to develop cognitive rehabilitation tasks based on Activities of Daily Living (ADL). ADL cognitive task has been developed and integrated with eye-tracking technology for task interaction and patients' performance monitoring.

Sarcoma mieloide de intestino delgado en paciente aleucémico / Myeloid sarcoma of the small intestine in a non-leukemic patient

Paciente varón de 19 años, con sospecha clínica deEnfermedad de Crohn, intervenido quirúrgicamente por uncuadro clínico de oclusión intestinal del segmento distal delyeyuno. El estudio de la pieza quirúrgica mostró una tumoraciónque infiltraba la pared intestinal y grasa mesentéricaadyacente. Histológicamente se evidenció una infiltraciónde la pared intestinal por células poco diferenciadas quedemostraron positividad a la mieloperoxidasa, lo que confirmóel diagnóstico de sarcoma mieloide. No se encontróevidencia de afectación de médula ósea, enfermedad leucémicani síndrome mielodisplásico o mieloproliferativo. Seinstauró tratamiento quimioterápico y tras una serie de complicacionesque se resolvieron favorablemente, el pacientepermanece asintomático a los 24 meses del diagnóstico inicial.El interés del caso estriba no sólo en la rareza de estetipo de tumores y la ubicación intestinal en un paciente sinenfermedad hematológica previa, sino también en la dificultaddel diagnóstico anatomopatológico, dado que un75% de estos casos aleucémicos son erróneamente diagnosticadosde inicio y confundidos con otros tumores malignospobremente diferenciados (AU)

A 19 year-old man with a clinical suspicion of Crohn’sdisease underwent surgery for intestinal occlusion in thedistal jejunum. Macroscopically, a mass infiltrating theintestinal wall and adjacent mesenteric fat was seen. Histologically,the intestinal wall was infiltrated by poorly differentiatedcells which were positive for myeloperoxidase anda diagnosis of myeloid sarcoma was made. No evidence ofbone marrow involvement or myelodysplastic or myeloproliferativedisorders was seen. The patient was treated withchemotherapy and, after several complications which weresuccessfully resolved, is asymptomatic 2 years after theinitial diagnosis. This unusual case of a rare tumour, occurringin the intestine in the absence of previous haematologicalmalignancy, draws attention to the diagnostic difficultiesinvolved; indeed, 75% of nonleukemic cases areinitially misdiagnosed, often being confused with poorlydifferentiated malignant tumours (AU)

Structural and molecular basis of starch viscosity in hexaploid wheat.

Wheat starch is considered to have a low paste viscosity relative to other starches. Consequently, wheat starch is not preferred for many applications as compared to other high paste viscosity starches. Increasing the viscosity of wheat starch is expected to increase the functionality of a range of wheat flour-based products in which the texture is an important aspect of consumer acceptance (e.g., pasta, and instant and yellow alkaline noodles). To understand the molecular basis of starch viscosity, we have undertaken a comprehensive structural and rheological analysis of starches from a genetically diverse set of wheat genotypes, which revealed significant variation in starch traits including starch granule protein content, starch-associated lipid content and composition, phosphate content, and the structures of the amylose and amylopectin fractions. Statistical analysis highlighted the association between amylopectin chains of 18-25 glucose residues and starch pasting properties. Principal component analysis also identified an association between monoesterified phosphate and starch pasting properties in wheat despite the low starch-phosphate level in wheat as compared to tuber starches. We also found a strong negative correlation between the phosphate ester content and the starch content in flour. Previously observed associations between internal starch granule fatty acids and the swelling peak time and pasting temperature have been confirmed. This study has highlighted a range of parameters associated with increased starch viscosity that could be used in prebreeding/breeding programs to modify wheat starch pasting properties.

Gene expression in a starch synthase IIa mutant of barley: changes in the level of gene transcription and grain composition.

The barley shrunken grain mutant M292 has a novel high-amylose starch phenotype caused by a mutation in the starch synthase IIa gene (SsIIa) located at the starch excess-6 (sex6) locus on chromosome 7H of barley. The loss of SSIIa enzyme activity leads to a decrease in amylopectin synthesis to less than 20% of the levels found in wild-type grains. Detailed composition analysis indicates that the contents of protein, non-starch polysaccharides, lipid, sucrose and hexoses, and fructo-oligosaccharides are increased in mature M292 grain compared to wild type. Using a microarray analysis, we characterize the differences between the transcription profiles of wild-type and mutant barley endosperms at mid-grain fill. The expression changes include genes involved in carbon storage, stress-related genes, and a number of transcripts with unassigned function. The changes in gene expression are discussed in terms of the altered grain composition of the mutant seed.

Transobturator tape procedure outcome: a clinical and quality of life analysis of a 1-year follow-up.

To report the results obtained with the transobturator sub-urethral tape (TOT) for the surgical treatment of stress urinary incontinence (SUI) after 1 year follow-up. Ninety-three patients diagnosed with SUI or mixed urinary incontinence (MUI) underwent a TOT procedure associated to prolapse surgery, if necessary. Pre-operative quality of life (QoL) was assessed with the Urogenital Distress Inventory Short Form (UDI-6)/Incontinence Impact Questionnaire Short Form (IIQ-7) questionnaires. Surgical and early complications were monitored. A stress test and an urodynamic test if urge incontinence de novo appeared were performed at 1 year follow-up. UDI-6/IIQ-7 questionnaires and SUI symptoms were recorded. Patients' characteristics, pre-operative quality of life and urodynamic evaluation were similar in the TOT and in the pelvic floor surgery group. From the sample, 15% had post-operative retention and 10% had vaginal erosion. The global rate of objective cure was 97% in both groups. The scores of the QoL questionnaires were worse by 9% and 10% with the procedure, respectively. Patients with urodynamic (MUI) or persistence of SUI symptoms (10%) did not reach a significant improvement, although patients with urge incontinence de novo (10%) did. The TOT procedure is safe and effective. Results showed that the association to pelvic floor surgical techniques did not diminish 1 year later. The stress test outcome assessment can overestimate the results, compared to the QoL assessment. In our report, the MUI did not improve with this surgical approach. Our results highlight the necessary employment of both the objective testing and the patient's opinion of her symptoms during daily life.

[Study of a intestinal enteroliths in human patient with colon adenocarcinoma. Is it similar to renal calculi?]. / Estudio de un cálculo intestinal en un paciente con adenocarcinoma de colón. Es similar a los cálculos renales?

This work shows the study performance to intestinal enterolithis from a 91 year old patient with multiple enterolithiasis confirmed by abdominal X-ray and TAC analyses showing the presence of intestinal, renal and bile stones. This enterolithis is associated with colon adenocarcinoma. The enteroliths were obtained by hemicolectomia and were analyzed by infrared spectroscopy (IR), giving non-stoichiometry carbonate apatite whitloquite-like with, possibly, organic material. By atomic emission spectroscopy we found Ca, Mg, K, Na and K (mg/100 mg of calculi) and Zn, Ba, Mn, Fe, Cu, Si, Ti and Br in minor proportion (microg/100 mg of calculi). Because of calculi morphology and the IR spectra (non-stoichiometry carbonate apatite) we carried out analysis by high performance liquid chromatography (HPLC) and found coproporphyrin (about microg/g of calculi) and uroporphyrin, protoporphyrin and heptacarboxy-porphyrin in minor extent. Calculi were also studied by scanning electronic microscopy and EDX and X-ray diffraction giving crystals of CaP4O11. All these results show that intestinal enteroliths composition are similar to renal calculi although its morphology differs from renal calculi.

Estudio de un cálculo intestinal en un paciente con adenocarcinoma de colón. ¿es similar a los cálculos renales? / Study of a intestinal enteroliths in human patient with colon adenocarcinome. Is it similar to renal calculi?

Este trabajo muestra el estudio realizado a enterolitos intestinales procedentes de un paciente de 91 años que padecía una enterolitiasis múltiple confirmada por estudio radiológico abdominal y TAC, mostrando cálculos en el tracto intestinal, renal y biliar. Además esta enterolitiasis estaba asociada a un adenocarcinoma de colon. Los enterolitos analizados proceden de una intervención quirúrgica en la que se practicó una hemicolectomía derecha. Los enterolitos se sometieron a un análisis por espectrometría de infrarrojos (IR) observándose un espectro de carbonato apatita no-estequiométrica, tipo whitloquita, posiblemente con materia orgánica. Con el fin de estudiar el posible contenido de diversos elementos químicos, se practicó un análisis por espectrometría de emisión atómica encontrándose, fundamentalmente, los iones Ca, Mg, K, Na y K (del orden de mg/100 mg de cálculo) y Zn, Ba, Mn, Fe, Cu, Si, Ti y Br en menor proporción (del orden de μg/100 mg de cálculo). Dada la morfología del cálculo y su espectro de IR (carbonato apatita no estequiométrica) se determinó la posible presencia de porfirinas por cromatografía líquida de alta resolución (HPLC) encontrándose, fundamentalmente, coproporfirina (μg/g de cálculo) y en menor proporción uroporfirina, protoporfirina y hepta-carboxi porfirina. El estudio se completó con el análisis de los enterolitos mediante microscopía electrónica de barrido y EDX. El análisis por difracción de rayos X detectó la presencia de CaP4O11. Los resultados obtenidos de los diferentes análisis muestran que la composición de los enterolitos es similar a la de los cálculos renales, aunque su morfología difiera de estos

This work shows the study performance to intestinal enterolithis from a 91 year old patient with multiple enterolithiasis confirmed by abdominal X-ray and TAC analyses showing the presence of intestinal, renal and bile stones. This enterolithis is associated with colon adenocarcinoma. The enteroliths were obtained by hemicolectomia and were analyzed by infrared spectroscopy (IR), giving nonstoichiometry carbonate apatite whitloquite-like with, possibly, organic material. By atomic emission spectroscopy we found Ca, Mg , K, Na y K (mg/100 mg of calculi) and Zn, Ba, Mn, Fe, Cu, Si, Ti and Br in minor proportion (μg/100 mg of calculi). Because of calculi morphology and the IR spectra (non-stoichiometry carbonate apatite) we carried out analysis by high performance liquid chromatography (HPLC) and found coproporphyrin (about μg/g of calculi) and uroporphyrin, protoporphyrin and heptacarboxy-porphyrin in minor extent. Calculi were also studied by scanning electronic microscopy and EDX and X-ray diffraction giving crystals of CaP4O11. All these results show that intestinal enteroliths composition are similar to renal calculi although its morphology differs from renal calculi

Genetic characterisation of dough rheological properties in a wheat doubled haploid population: additive genetic effects and epistatic interactions.

Doubled haploid lines (n = 160) from a cross between wheat cultivars 'Cranbrook' (high dough extensibility) and 'Halberd' (low dough extensibility) were grown at three Australian locations. The parents differ at all high- and low-molecular-weight glutenin loci. Dough rheological parameters were measured using small-scale testing procedures, and quantitative trait locus (QTL) mapping procedures were carried out using an existing well-saturated genetic linkage map for this cross. Genetic parameters were estimated using three software packages: QTLCartographer, Epistat and Genstat. Results indicated that environmental factors are a major determinant of dough extensibility across the three trial sites, whereas genotypic factors are the major determinants of dough strength. Composite interval mapping analysis across the 21 linkage groups revealed that as expected, the main additive QTLs for dough rheological properties are located at the high- and low-molecular-weight glutenin loci. A new QTL on chromosome 5A for M-extensibility (a mixograph-estimated measure of extensibility) was detected. Analysis of epistatic interactions revealed that there were significant conditional epistatic interactions related with the additive effects of glutenin loci on dough rheological properties. Therefore, the additive genetic effects of glutenins on dough rheological properties are conditional upon the genetic background of the wheat line. The molecular basis of the interactions with the glutenin loci may be via proteins that modify or alter the gluten protein matrix or variations in the expression level of the glutenin genes. Reverse-phase high performance liquid chromatography analysis of the molar number of individual glutenin subunits across the population showed that certain conditional epistases resulted in increased expression of the affected glutenin. The epistatic interactions detected in this study provide a possible explanation of the variable genetic effects of some glutenins on quality attributes in different genetic backgrounds and provide essential information for the accurate prediction of glutenin related variance in marker-assisted wheat breeding.

Identificación in silico, caracterización molecular y análisis de expresión de la proteína de filamento para flagelar PFR3 del Tripanosoma brucei / Silico identification, molecular characterization and expression analysis of the Trypanosoma brucei paraflagellar rod protein PFR3

En el presente artículo se describen la identificación y el aislamiento del gen codificante para la proteína PFR3 del T. brucei brucei. . La secuencia deducida de aminoácidos produce una proteína de 592 residuos con un punto isoeléctrico de 5,14 y presenta una identidad de secuencia del 68,9% con la proteína PFR3 del T. cruzi cruzi. . Sin embargo, el porcentaje de homología entre la proteína PFR3 de T. brucei y otras secuencias disponibles de PFRs de T. brucei y T. cruzi es inferior al 22%. En contraste con lo descrito para los miembros de la familia de proteínas de filamento paraflagelar, la mayor divergencia entre las proteínas PFR3 de T. cruzi y T. brucei se encuentra en la región central de la proteína, con una similitud del 38% en 200 aminoácidos. Estimamos que existen dos copias de la proteína PFR3 de T. brucei por genoma haploide. El gen se transcribe como mARN de aproximadamente 3,6 kb de longitud, presente con la misma abundancia en formas parasitarias procíclicas y del torrente sanguíneo

In the present paper we describe the identification and isolation of the gene coding for T. brucei PFR3 protein. The deduced amino acid sequence produces a protein of 592 residues with an isoelectric point of 5.14 and shows a 68.9% sequence identity with T. cruzi PFR3 protein. However, the percentage of homology among T. brucei PFR3 and other available PFRs sequences from T. brucei and T. cruzi is lower than 22%. In contrast to that described for members of paraflagellar rod protein family, the highest divergence between T. cruzi and T. brucei PFR3 proteins is located at the central region of the protein with a 38% of similarity over 200 amino acid. We estimate that there exist two copies of the T. brucei PFR3 protein per haploid genome. The gene is transcribed as a mRNA of approximately 3.6 kb in length, equally abundant in both procyclic and bloodstream parasite forms

Characterization of low-molecular-weight glutenin genes in Aegilops tauschii.

This paper reports the characterization of the low-molecular-weight (LMW) glutenin gene family of Aegilops tauschii (syn. Triticum tauschii), the D-genome donor of hexaploid wheat. By analysis of bacterial artificial chromosome (BAC) clones positive for hybridization with an LMW glutenin probe, seven unique LMW glutenin genes were identified. These genes were sequenced, including their untranslated 3' and 5' flanking regions. The deduced amino acid sequences of the genes revealed four putative active genes and three pseudogenes. All these genes had a very high level of similarity to LMW glutenins characterized in hexaploid wheat. The predicted molecular weights of the mature proteins were between 32.2 kDa and 39.6 kDa, and the predicted isoelectric points of the proteins were between 7.53 and 8.06. All the deduced proteins were of the LMW-m type. The organization of the seven LMW glutenin genes appears to be interspersed over at least several hundred kilo base pairs, as indicated by the presence of only one gene or pseudogene per BAC clone. Southern blot analysis of genomic DNA of Ae. tauschii and the BAC clones containing the seven LMW glutenin genes indicated that the BAC clones contained all LMW glutenin-hybridizing bands present in the genome. Two-dimensional gel electrophoresis of an LMW glutenin extract from Ae. tauschii was conducted and showed the presence of at least 11 distinct proteins. Further analysis indicated that some of the observed proteins were modified gliadins. These results suggest that the actual number of typical LMW glutenins may in fact be much lower than previously thought, with a number of modified gliadins also being present in the polymeric fraction.

[Consumption of medicinal herbs in patients attending a gastroenterology outpatient clinic]. / Consumo de hierbas medicinales en los pacientes de consultas externas de digestivo.

The consumption of medicinal herbs is one of the most important topics in alternative and complementary medicine. The widespread use of these substances among the general population gives rise to the possibility of therapeutic or toxic effects in patients seeking conventional medical assistance. To determine the frequency of medicinal herb use, the species consumed and the profile of medicinal herb consumers among patients with gastrointestinal disorders, patients attending the gastroenterology outpatient clinic of the Francesc de Borja district hospital (Gandía, Spain) over a 5-month period were interviewed and 539 valid questionnaires were obtained. A total of 34.7% of the interviewees had taken medicinal herbs at some time and 26.9% had used them in the last year. Self-prescription was reported by 67.1%. Medicinal herbs were mainly obtained in the pharmacy or herbalist's (74.7%). The results of medicinal herb therapy were considered good or excellent by 80.3% of the interviewees, average by 18.6% and poor by 1.1%. In the univariate analysis, medicinal herb consumption was positively associated with female sex (p < 0.001), a university education (p < 0.05), consumption of psychotropic drugs (p < 0.005), use of trencar l'enfit (TE, a common practice of magic medicine in Valencia) (p < 0.001), functional gastrointestinal disorders (p < 0.005) and a diagnosis of lower gastrointestinal disorder (p < 0.01). In the multivariate analysis, the variables that remained statistically significant were female sex (p < 0.005), university education (p < 0.01), use of TE and a diagnosis of lower gastrointestinal disorder. Fifty-seven botanical varieties were used. The most frequent varieties were Santolina chamaecyparissus (18.8%), Tilia platyphyllos (6.5%), Thymus vulgaris (6%), Equisetum ramosissimum (4.7%), Mentha pulegium (4.4%) and Valeriana officinalis (4.4%). The results show that consumption of medicinal herbs is frequent among patients attending the gastroenterology outpatient clinic of a district hospital. The probable profile of those showing maximum consumption is: female sex, university education, lower gastrointestinal disorder, functional gastrointestinal disorder, psychotropic drug consumption and use of TE.

Molecular discrimination of Bx7 alleles demonstrates that a highly expressed high-molecular-weight glutenin allele has a major impact on wheat flour dough strength.

High-molecular-weight glutenin subunits (HMW-GS) are important determinants of wheat dough quality as they confer visco-elastic properties to the dough required for mixing and baking performance. With this important role, the HMW-GS alleles are key markers in breeding programs. In this work, we present the use of a PCR marker initially designed to discriminate Glu1 Bx7 and Glu1 Bx17 HMW-GS. It was discovered that this marker also differentiated two alleles, originally both scored as Glu1 Bx7, present in the wheat lines CD87 and Katepwa respectively, by a size polymorphism of 18 bp. The marker was scored across a segregating doubled-haploid (DH) population (CD87 x Katepwa) containing 156 individual lines and grown at two sites. Within this population, the marker differentiated lines showing the over-expression of the Glu1 Bx7 subunit (indicated by the larger PCR fragment), derived from the CD87 parent, relative to lines showing the normal expression of the Glu1 Bx7 subunit, derived from the Katepwa parent. DNA sequence analysis showed that the observed size polymorphism was due to an 18 bp insertion/deletion event at the C-terminal end of the central repetitive domain of the Glu1 Bx 7 coding sequence, which resulted in an extra copy of the hexapeptide sequence QPGQGQ in the deduced amino-acid sequence of Bx7 from CD87. When the DH population was analysed using this novel Bx7 PCR marker, SDS PAGE and RP HPLC, there was perfect correlation between the Bx7 PCR marker results and the expression level of Bx7. This differentiation of the population was confirmed by both SDS-PAGE and RP-HPLC. The functional significance of this marker was assessed by measuring key dough properties of the 156 DH lines. A strong association was shown between lines with an over expression of Bx7 and high dough strength. Furthermore, the data demonstrated that there was an additional impact of Glu-D1 alleles on dough properties, with lines containing both over-expressed Bx7 and Glu-D1 5+10 having the highest levels of dough strength. However, there was no statistically significant epistatic interaction between Glu-B1 and Glu-D1 loci.

The sugary-type isoamylase gene from rice and Aegilops tauschii: characterization and comparison with maize and arabidopsis.

Genes for an isoamylase-like debranching enzyme have been isolated from rice and Aegilops tauschii, the donor of the D genome to wheat. The structures of the genes are very similar to each other and to the maize SU1 isoamylase gene and consist of 18 exons spread over approximately 7.5 kb. Southern analysis and fluorescent in situ hybridization showed the Ae. tauschii gene to be located in the proximal region of the short arm of chromosome 7D, thus showing synteny with the localization of the rice isoamylase gene on rice chromosome 8. Analysis of the expression pattern of wheat sugary isoamylase genes indicates that they are strongly expressed in the developing endosperm 6 days after flowering. Three distinct Sugary-type cDNA sequences were isolated from the wheat endosperm that are likely to correspond to the products of the three genomes. The deduced amino acid sequence of rice and wheat Sugary-type isoamylase is compared with other sequences available in the database and the results demonstrate that there are three types of isoamylase sequences in plants: those containing 18 exons (the Sugary-type isoamylase gene), those containing 21 exons, and those containing only 1 exon. It is possible that different combinations of isoamylase genes are expressed in different tissues.