Genotype and phenotype variability of BC1F1 progenies from backcross of C3 and Koshihikari

Improvement of local rice variety could be conducted by crossing it with superior varieties. C3 is improved line of Acehnese rice ‘Cantik Manis’ by crossing it with the introduced Chinese rice variety Yin Zhan to make their progenies have shorter lifespan and good productivity. Although C3 line has been improved, this variety still has lifespan for about ± 135 days. Koshihikari is Japanese rice variety with its lifespan about 80-90 days. It is though that Koshihikari has various semidwarf gene such as sd-1 or other semidwarf genes. The strategy that can be used to decrease harvesting period of C3 is by crossing this variety with Koshihikari to insert semi-dwarf gene such as sd-1. The research was conducted to analyse the existing of sd-1 gen and phenotypic performance of their progenies specially in BC1F1. The seed of BC1F1 were found by crossing 2 prospective F1 plants (T8 and T10) with C3 parent. Molecular analysis showed that the whole progenies BC1F1-T8 inherit sd-1 gene (100%). Phenotypic observation showed the whole progenies had similar architecture as their parents with average heights at 45 DAP ranged from 74-91 cm, and number of tiller range from 3-9 tillers. Whereas in BC1F1-T10 progenies, there were 11 plant from 12 plants inherit sd-1 gene (91.7%). These progenies had average heights at 45 DAP ranged from 75-88 cm, and number of tiller range from 6-13 tillers.

A New Presenilin 1 (Psen1) Mutation (p.Cys263Trp) as a Cause of Both Early and Late-Onset Alzheimer’s Disease in a Large Italian Family

Mutations in the PSEN1 gene are the most common cause of autosomal dominant Alzheimer’s disease, and are characterized by a high phenotype variability. This study describes a five-generation family, with a prevalent late-onset of the disease and a high frequency of depression, in which a new missense mutation (c.789T > G, p.Cys263Trp) in exon 8 of the PSEN1 gene was found. Only the proband presented an early onset at the age of 45 with attention deficit, followed by spatial disorientation, psychiatric symptoms and parkinsonian signs. The other two cases had a late onset of the disease and a typical presentation with memory loss. Both were characterized by a high level of anxiety and depression. The disease course was different with signs of Lewy body dementia for the proband’s mother, and pyramidal involvement and a shorter disease duration for the proband’s maternal aunt. The other eight cases with late-onset dementia and three cases with a long history of depression have been reported in the family pedigree, underlying the high phenotype variability of PSEN1 mutations.

The Worldwide Landscape of Variants in the Androgen Receptor Gene Related to Androgen Insensitivity Syndrome: An Integrative Analysis

Androgen Insensitivity Syndrome (AIS) is an X-linked genetic disease and it is the most common cause of 46,XY DSD. It is divided into 3 phenotypes: complete (CAIS), partial (PAIS), and mild (MAIS). To analyse the landscape of AR variants in AIS we collected all AR variants reported among AIS in the literature (Pubmed, EMBASE, Medline) and websites (ensemble, HGMD, ClinVar). They were analyzed according to phenotype, exon location, domain, amino acid (aa) conservation, sex assignment, external genitalia virilization (EMS score), molecular and functional studies. Conservation analysis of the AR were performed using CONSURF plataform. To test our hypothesis that non-synonymous AR variants could also impact on splicing, we used both ESEfinder and Human Splicing Finder 3.1. We founded 901 individuals with AIS: CAIS = 565 (62.7%); PAIS = 282 (31.3%); and MAIS = 54 (6%). They had 465 different AR variants: CAIS = 290 (62.3%); PAIS = 135 (29.1%); and MAIS = 40 (8.6%). Among MAIS and PAIS, most variants were at LDB domain (22 out 40 = 55% and 84 out 135 = 62.2%, respectively) whereas they were at NTD domain among CAIS (129 out 290 = 44.5%). Most were missense (81%). However, small indels (11%), nonsense (3%), splicing sites (4%) and large deletions (1%) were all reported. Non-synonymous AR variants accounting for 60%, 96%, and 100% of CAIS, PAIS, and MAIS, respectively. Synonymous AR variants were rarely found (n=3). In 81% only the AR sequencing was performed. The remaining was detected by WES (18%) or WGS (1%). Deep intronic variant was detected in PAIS (n=1) while variants in the 5’UTR of the AR gene in both PAIS and CAIS (n=2). Most AR variants were located at conserved aa (78%), but AR variants at non-conserved aa were more frequently indels (p<.01). Functional studies were found in 38%, mostly showing reduced AR expression. Among PAIS, 48% (n=134) were assigned as male at birth. The median EMS was 5 (95% CI, 5-7) in those assigned as male while it was 3.2 (95% CI, 2-6) in those assigned as female (p<.01). The median of EMS score was lower in variants at NTD domain (2.8, 95% CI, 0-7). We identified 34 AR variants causing more than one AIS phenotype (mostly CAIS and PAIS) and 6 AR variants causing all of three AIS phenotypes. In silico analysis suggests potential to disrupt normal AR splicing in 18 (53%) by creating new acceptor or donor splicing sites (n=11) or exonic splicing signals (n=7). More severe AR variants are related to CAIS. Most AR variants were reported only based on AR sequencing. Therefore, the functional pathogenicity of these variants remains unclear. Further studies including WGS could help to expand the molecular diagnosis of AIS. There is phenotype variability in AIS. So, sex assignment of patients with PAIS cannot be based on a specific identified AR gene mutation. There is potential to alter splicing among non-synonymous AR variants, which could be an explanation for phenotype variability in AIS.

Penampilan Fenotipik, Keragaman, dan Heritabilitas Sembilan Genotipe Teh [Camellia sinensis (L.) O. Kuntze]

<em>The estimated value of genotype variability, phenotype variability, environmental variability, and heritability have an important role in breeding activities of tea</em> <em>in order to create the superior varieties. The objective of this study was to investigate the phenotypic performance, genotype and phenotype variation, and heritability value of nine genotypes of tea. The study was conducted at Pemandangan block, Tambi Plantation Unit, Wonosobo, Central Java, from April 2013 until April 2014. The Randomized Complete Block Design (RBD) with nine treatments and three replications was used in this study. The 9^th of treatments consisted of 2 genotypes of tea resulting from a cross (GMB 3 and GMB 4), 2 introduced genotypes (TRI 2024 and TRI 2025), and 5 local genotypes resulting from selection (Cin 143, Kiara 8, RB 3, Tambi 1, and Tambi 2). The results showed that the genotype of GMB 3 more higher than other genotypes in pecco length, leaf length, leaf width, length of leaf stalk, and length of leaf internodes characters, whereas Tambi 2, GMB 3, and GMB 4 more higher in fresh weight of P+2 and P+3. The production of fresh shoot of GMB 4 more higher than the other genotypes, but not significant with GMB 3 and RB 3. The leaf length and fresh shoot production characters has a wide of genotype and phenotype variability, whereas the high of heritability value were found in all characters observed. The selection based on leaf length and fresh shoot production characters will be effective because both characters have a high genotypes variability and heritability.</em>

The influence of the family-educator on the economic, biological and ethological characteristics of the queen honey bee (Apis mellifera)

This paper discusses the change in the economic, biological and ethological characteristics of the uterus of the honeybee under the influence of the teachers family. This issue is currently of concern to many breeders, as it has not been fully studied. It is the phenotype variability that is the determining component of selection. The method of evaluating the uterus by their key features, which are an integral part of the selection, is described. These key features are peace, loyalty, honey productivity and perseverance on the frame. The author considers the possibility of using non-tribal families (families taken without analysis and selection) as a family-educator, as it most often happens in uterine apiaries. The results show the differences between the groups of mother-sisters from different families-educators. From these results it is clearly seen that different breeds of bee colonies make changes in the useful economic characteristics of the queens, according to their pedigree characteristics. Such changes are unacceptable in this case, and therefore deserve attention. An analysis is made of exactly how the qualitative signs of the uterus change and what is most often worth paying attention to. A more thorough selection of foster families according to their pedigree characteristics is proposed. After all, the future of breeding depends on the quality selection of families-educators, maternal and father families.