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2. Phenotype variability in Czech patients carrying PAX6 disease-causing variants

Creator:
Moravikova, J., Kozmik, Z., Hlavata, L., Putzova, M., Skalicka, P., Michaelides, M., Malinka, F., Dudakova, L., and Liskova, P.
Format:
bez média and svazek
Type:
model:article and TEXT
Subject:
aniridia, ptosis, congenital cataract, uveal coloboma, PAX6, novel variant, and exon trapping
Language:
English
Description:
The aim of this study was to report PAX6 disease-causing variants in six Czech families, to describe the associated phenotypes, and to perform functional assessment of the splice site variants. Detailed ophthalmic examination was performed. The PAX6 coding region was directly sequenced in three probands. Two probands were analysed by exome sequencing and one by genome sequencing. The effect of two variants on pre-mRNA splicing was evaluated using an exon trapping assay. Six different heterozygous PAX6 variants were identified, with c.111_120del and c.1183+1G˃T being novel. Both c.1183+1G˃T and c.1032+1G>A were proved to cause aberrant splicing with exon skipping and subsequent frameshift. The phenotypic features were variable between and within families. One individual, aged 31 years, presented with mild unilateral ptosis accompanied by aniridia in the right eye, partial aniridia in the left eye, and bilateral congenital cataracts, without marked foveal hypoplasia. Bilateral microcornea, partial aniridia, congenital cataracts, and a large posterior segment coloboma were found in another proband, aged 32 years. One child, aged 8 years, had bilateral high myopia, optic nerve colobomas, anterior polar cataracts, but no iris defects. Another individual, aged 46 years, had bilateral congenital ptosis, iris hypoplasia, keratopathy with marked fibrovascular pannus, anterior polar cataract, and foveal hypoplasia combined with impaired glucose tolerance. However, his daughter, aged 11 years, showed classical features of aniridia. Our study extends the genetic spectrum of PAX6 disease-causing variants and confirms that the associated phenotypic features may be very broad and different to the ‘classical’ aniridia.
Rights:
http://creativecommons.org/publicdomain/mark/1.0/ and policy:public

3. Quantitative response to photoperiod and weak coupling between seasonal morphs and diapause regulation in the Asian comma butterfly, Polygonia c-aureum (Lepidoptera: Nymphalidae)

Creator:
Hiroyoshi, Satoshi , Takeda, Makio , Mitsunaga, Takayuki , and Reddy, Gadi V.P.
Format:
počítač and online zdroj
Type:
model:article and TEXT
Subject:
Lepidoptera, Nymphalidae, Polygonia c-aureum, diapause induction, photoperiodism, ovary, reproduction, and seasonal form
Language:
English
Description:
Reproduction and wing patterns (shape and colouration) in Polygonia c-aureum L. (Lepidoptera: Nymphalidae) are regulated by both photoperiod and temperature experienced during the immature stages, which result in the development of summer or autumn forms. The critical day length for this seasonal change in form was 13.5L : 10.5D at 21°C and 13L : 11D at 25°C. We investigated the connection between seasonal form and female reproduction. Under a 15L : 9D photoperiod at 21°C, reproductively active summer form butterflies are produced, whereas under an 8L : 16D photoperiod at 21°C autumn form butterflies with a strong tendency to enter diapause were produced. On the other hand, under the critical day lengths at 21 or 25°C, autumn form butterflies developed with a weak tendency to enter diapause. When the adult butterflies were transferred from a critical or a short photoperiod to a long photoperiod shortly after emergence, the former were more likely to terminate diapause than the latter. If individuals are reared throughout their entire life cycle under a short photoperiod at 21°C, all the adults have a strong tendency to enter diapause. These results reveal the quantitative effects of photoperiod on diapause in this butterfly and strongly indicate that the determination of the autumn form and induction and maintenance of diapause are not rigidly coupled, at least under laboratory conditions.
Rights:
http://creativecommons.org/publicdomain/mark/1.0/ and policy:public