Presence of the topic Xeroderma Pigmentoso in scientific articles published between 2003 and 2018

Xeroderma pigmentosum (XP) is a rare genetic disease, of autosomal and recessive character, and may affect both sexes, regardless of race, and often one case per 250,000 people. This disease has several other symptoms that present themselves heterogeneously over its carriers. The aim of this article was to quantitatively analyze the presence of the topic Xeroderma pigmentoso in scientific articles published between 2003 and 2018. In the identification, a total of 674 results were obtained. The follow-up of the following steps allowed, in the end, the selection of 24 papers. Regarding the language, most of the selected papers were written in Portuguese (around 58.33%), the rest in English (around 41.67%). The highest publication rates occurred between 2015 and 2017 (13%). The years 2007, 2007, 2011, 2014 and 2018 presented intermediate rates (9%) and the lowest rates (4%) occurred in 2003, 2008, 2010 and 2012, and 75% papers were published/presented in the 2nd decade of the 21st century, while the others (25%) were in the 1st decade of the 21st century. The findings of this study showed that there are few scientific studies on XP because it is a rare disease, which possibly leads to few investments in this area, especially with regard to treatment and medications.

Structural basis for the dominant or recessive character of GLIALCAM mutations found in leukodystrophies

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a type of leukodystrophy characterized by white matter edema, and it is caused mainly by recessive mutations in MLC1 and GLIALCAM genes. These variants are called MLC1 and MLC2A with both types of patients sharing the same clinical phenotype. In addition, dominant mutations in GLIALCAM have also been identified in a subtype of MLC patients with a remitting phenotype. This variant has been named MLC2B. GLIALCAM encodes for an adhesion protein containing two immunoglobulin (Ig) domains and it is needed for MLC1 targeting to astrocyte–astrocyte junctions. Most mutations identified in GLIALCAM abolish GlialCAM targeting to junctions. However, it is unclear why some mutations behave as recessive or dominant. Here, we used a combination of biochemistry methods with a new developed anti-GlialCAM nanobody, double-mutants and cysteine cross-links experiments, together with computer docking, to create a structural model of GlialCAM homo-interactions. Using this model, we suggest that dominant mutations affect different GlialCAM–GlialCAM interacting surfaces in the first Ig domain, which can occur between GlialCAM molecules present in the same cell (cis) or present in neighbouring cells (trans). Our results provide a framework that can be used to understand the molecular basis of pathogenesis of all identified GLIALCAM mutations.

Implementasi Pengaturan Karakter, Fisik dan Jenis Kelamin Janin (dalam Kajian Tradisi, Sains dan Islam)

Considering each cell between the reproductive cells contain half the amount contained in the cell body and assigned to him, the existence of post-law partner is one sign of the greatness of God in creating his creatures. This is due to the merging of both male and female reproductive cells to form the zygote, then fulfilled the specified number of chromosomes to the human species, creating diversity in character between both parents and children are increasingly enrich life and make it more alive. This diversity also prove absolusitas power of God that is designing such a process that occurs in the zygote so out of humans, animals, plants as new creatures like its predecessor in several different characters and in some other characters. In humans each body cell contains 46 chromosomes arranged in 23 pairs that are similar in terms of shape, but different in terms of structure and gene carried by each chromosome. The amount of raw character (fixed) in the cells of male and female, although there are differences in the chromosomes specified for sex. Male body cell contains 44 chromosomes, plus two chromosomes of sex are not similar, because one of them labeled masculine (Y), and the other is labeled feminine (X). with the same composition, a woman's body cells contain 44 chromosomes, in addition to the two chromosomes of sex, but they both feminism (X, X). With this process, each human character has a pair of genes, one derived from the father and predecessor, while the other comes from the mother and predecessor. Gen stronger will dominate, and the character of this gene is hereinafter referred to as the dominant character. Being weaker genes will disappear and step aside for a while to appear again later in the next generation. Therefore, the character who brought termed recessive character. Thus, the character of the child may be different from the character of his brothers, or parents or predecessors.

(265) DNA Sequence Variation within the Promoter of VvmybA1 Associates with Flesh Pigmentation of Intensely Colored Grape Varieties

Grapevine (Vitis vinifera L.) is one of our oldest domesticated crops and economically the most important cultivated fruit crop in the world. Cultivated grapes show substantial diversity in fruit color, including: varying shades of black, red, pink, grey, white, and types with pigmented berry flesh. The majority of V. vinifera cultivars only possess anthocyanin pigmentation in the skin of the berry (also known as teinturiers). However, some cultivars possess berries with intensely pigmented flesh as well as skin, which is often also associated with greater pigmentation of vegetative tissues. The genetic control and inheritance of fruit color in grapevine is poorly understood, despite evidence that the primary determination of anthocyanin production appears to be controlled by a single dominant locus in V. vinifera with white fruit being a recessive character. Recently, it has been shown that the presence of Gret1, a Ty3-gypsy-type retro-transposon in the promoter region of a myb-like regulatory gene is present in white-fruited cultivars of V. vinifera and that allelic variation in this gene associates with several qualitative classes of grape fruit color. It has been observed that the red-flesh berry phenotype is similarly controlled by a single dominant locus. Considering the association of variation in VvmybA1 with grape berry skin color, it was hypothesized that DNA sequence variation in VvmybA1 would also be associated with genotypes showing intensely pigmented berry flesh. In this study, we show that allelic variation in VvmybA1 associates with the teinturier phenotype both in a panel of accessions possessing red-flesh as well as in a population of full-sibs segregating for the red-flesh phenotype.

Inheritance of ffs, a Gene Conditioning Fasciated Flower Stem in Red Beet

A fasciated flower stem character arose spontaneously during development of the red beet (Beta vulgaris L.) inbred line W411. The fasciated character is manifest by a flattened flower stem with petioles coalesced into a twisted, ribbonlike appearance. No fasciation is present in the vegetative stem or petioles. An inheritance study was conducted to determine the genetic control of flower stem fasciation. The inbred line W411 was used both as a male and female parent in crosses with four red beet inbred lines. Segregating progenies in both the BC1 and F2 generations were developed and scored for the fasciated flower stem character. Variable expression of the fasciated flower stem phenotype was observed in these progenies; however, the presence of flattened flower stems at the stem-hypocotyl junction was unequivocal. Chisquare goodness-of-fit tests in the BC1 and F2 generations did not deviate significantly from expected ratios for a monogenic recessive character for each genetic background. No reciprocal differences were detected for any cross in this group of four inbred lines, which suggests the lack of maternal effect for the fasciated character. The symbol ffs is proposed to describe the genetic control of the fasciated flower stem phenotype.

The ffs Allele Conditions Flower Stem Fasciation in Red Beet

A fasciated flower stem character arose spontaneously during development of the red beet (Beta vulgaris L.) inbred line W411. The fasciated character is manifest by a flattened flower stem with petioles coalesced into a twisted, ribbonlike appearance. No fasciation is present in the vegetative stem or petioles. An inheritance study was conducted to determine the genetic control of flower stem fasciation. The inbred line W411 was used both as a male and female parent in crosses with four red beet inbred lines. Segregating progenies in both the BC1 and F2 generations were developed and scored for the fasciated flower stem character. Variable expression of the fasciated flower stem phenotype was observed in these progenies; however, the presence of flattened flower stems at the stem/hypocotyl junction was unequivocal. Chi-square goodness-of-fit tests in both the BC1 and F2 generations did not deviate significantly from expected ratios for a monogenic recessive character for each genetic background. No reciprocal differences were detected for any cross in this group of four inbred lines, which suggests the lack of maternal effect for the fasciated character. The symbol ffs is proposed to describe the genetic control of the fasciated flower stem phenotype.

Molecular analysis of opaque-2 alleles from Zea mays L. reveals the nature of mutational events and the presence of a hypervariable region in the 5′ part of the gene

SummaryTen recessive Opaque-2 (O2) alleles of independent origin were characterized at the molecular level. The results revealed a high level of polymorphism at the O2 locus. In addition, our data suggest the possible cause for the recessive character of some of the alleles investigated, and allow us to infer some conclusions concerning the degree of relationship between the o2 mutations. Comparison of genomic sequences spanning the first exon and obtained from a series of wild-type and recessive alleles revealed the presence of a hypervariable region, involving different dipeptides, in the N-terminal part of the O2 protein.