phenotypic abnormality
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2021 ◽  
Author(s):  
Junyan Xie ◽  
Bin Qi ◽  
Yuanyuan Wu ◽  
Chenghong Mou ◽  
Lihua Wang ◽  
...  

ABSTRACTEfficient in vitro callus generation is fundamental to tissue culture propagation, a process required for plant regeneration and transgenic breeding for desired phenotypes. Identifying genes and regulatory elements that prevent callus retardation and browning is essential to facilitate the development of vitro callus systems. Here we show thatBREVIPEDICELLUS(BP) andERECTA(ER) pathways inArabidopsiscallus are converged to prevent callus browning and positively regulate an isoperoxidase gene AtPRX17expression in the rapid growth callus. Loss of functions in bothBPandERresulted in markedly increasing callus browning. Transgenic lines withpro35S::AtPRX17in thebp-5 er105double mutant background fully rescued this phenotypic abnormality. Using plantin vitroDNA-binding assays, we observed that BP protein bound directly to the upstream sequence ofAtPRX17to promote its transcription during callus growth. ER is a universally presenting factor required for cell proliferation and growth, we show thatERpositively regulates expression of a transcription factorWRKY6, which also directly binds to an additional site of the AtPRX17promoter for its high expression. Our data reveals an important molecular mechanism in regulating expression of peroxidase isozyme to reduce Arabidopsis callus browning.HighlightBREVIPEDICELLUSandERECTAare involved in regulating Arabidopsis callus browning by controlling expression ofAtPRX17.


2020 ◽  
Vol 7 (5) ◽  
pp. 1153
Author(s):  
Venugopal S. ◽  
Sahana Devadas ◽  
Yashwant M.

The Kunze-Riehm syndrome also called as Michelin tire baby syndrome (MTBS), is a rare genodermatosis, characterized by multiple symmetric circumferential folding of excess skin with the various phenotypic abnormality. The diagnosis is made on the basis of the characteristic clinical features in the literature there are approximately 31 cases reported and to the best of our knowledge, this would be the sixth case published from India. Herein authors report a rare case of Kunze- Riehm syndrome in a neonate.


2019 ◽  
Author(s):  
Feng Liu ◽  
Lihong Ma ◽  
Youwu Wang ◽  
Yanjun Li ◽  
Xinyu Zhang ◽  
...  

Abstract Background In higher plants, the FAD2 gene encodes the microsomal oleate Δ12-desaturase, one of the key enzymes essential for the biosynthesis of the polyunsaturated lipids that serve many important functions in plant development and stress responses. FAD2 catalyzes the first step, in the biosynthesis of the polyunsaturated fatty acids (PUFAs) found in the cell membrane and cell wall, and it is thus of great importance to investigate the regulatory role of FAD2 in anther development.Results We reported the molecular characterization of the cotton (Gossypium hirsutum) GhFAD2 gene family and the essential role of GhFAD2-3 in cotton anther development. G. hirsutum contains four pairs of homoeologous FAD2 genes (GhFAD2-1 to GhFAD2-4). GhFAD2-3 is ubiquitously and relatively highly expressed in all analyzed tissues, particularly in anthers. Specific inhibition of GhFAD2-3 using the RNA interference approach resulted in male sterility due to impaired anther development at the stages from meiosis to maturation. The cellular phenotypic abnormality observed at the meiosis stage of the GhFAD2-3 silenced plant (fad2-3) coincides with the significant reduction of C18:2 in anthers at the same stage. Compared with that of the wild type (WT), the content of C18:1 was 41.48%, which increased by 5 fold in the fad2-3 anther at the pollen maturation stage. Moreover, the ratio of monounsaturated to polyunsaturated fatty acid was 5.43 in fad2-3 anther, which was much higher than that of the WT (only 0.39). Through compositional analysis of anthers cuticle and transcriptome data, we demonstrated it was unfavorable to the development of anther by regulating GhFAD2-3 expression level to increase the oleic acid content.Conclusions Our work demonstrated the importance of C18:2 and/or C18:3 in the development of the pollen exine and anther cuticle in cotton and provided clue for further investigation of the physiological significance of the fatty acid composition for plant growth and development.


2019 ◽  
Author(s):  
Feng Liu ◽  
Lihong Ma ◽  
Youwu Wang ◽  
Yanjun Li ◽  
Xinyu Zhang ◽  
...  

Abstract Background In higher plants, the FAD2 gene encodes the microsomal oleate Δ12-desaturase, one of the key enzymes essential for the biosynthesis of the polyunsaturated lipids that serve many important functions in plant development and stress responses. FAD2 catalyzes the first step, in the biosynthesis of the polyunsaturated fatty acids (PUFAs) found in the cell membrane and cell wall, and it is thus of great importance to investigate the regulatory role of FAD2 in anther development.Results We reported the molecular characterization of the cotton (Gossypium hirsutum) GhFAD2 gene family and the essential role of GhFAD2-3 in cotton anther development. G. hirsutum contains four pairs of homoeologous FAD2 genes (GhFAD2-1 to GhFAD2-4). GhFAD2-3 is ubiquitously and relatively highly expressed in all analyzed tissues, particularly in anthers. Specific inhibition of GhFAD2-3 using the RNA interference approach resulted in male sterility due to impaired anther development at the stages from meiosis to maturation. The cellular phenotypic abnormality observed at the meiosis stage of the GhFAD2-3 silenced plant (fad2-3) coincides with the significant reduction of C18:2 in anthers at the same stage. Compared with that of the wild type (WT), the content of C18:1 was 41.48%, which increased by 5 fold in the fad2-3 anther at the pollen maturation stage. Moreover, the ratio of monounsaturated to polyunsaturated fatty acid was 5.43 in fad2-3 anther, which was much higher than that of the WT (only 0.39). Through compositional analysis of anthers cuticle and transcriptome data, we demonstrated it was unfavorable to the development of anther by regulating GhFAD2-3 expression level to increase the oleic acid content.Conclusions Our work demonstrated the importance of C18:2 and/or C18:3 in the development of the pollen exine and anther cuticle in cotton and provided clue for further investigation of the physiological significance of the fatty acid composition for plant growth and development.


2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Feng Liu ◽  
Lihong Ma ◽  
Youwu Wang ◽  
Yanjun Li ◽  
Xinyu Zhang ◽  
...  

Abstract Background In higher plants, the FAD2 gene encodes the microsomal oleate Δ12-desaturase, one of the key enzymes essential for the biosynthesis of the polyunsaturated lipids that serve many important functions in plant development and stress responses. FAD2 catalyzes the first step, in the biosynthesis of the polyunsaturated fatty acids (PUFAs) found in the cell membrane and cell wall, and it is thus of great importance to investigate the regulatory role of FAD2 in anther development. Results We reported the molecular characterization of the cotton (Gossypium hirsutum) GhFAD2 gene family and the essential role of GhFAD2–3 in cotton anther development. G. hirsutum contains four pairs of homoeologous FAD2 genes (GhFAD2–1 to GhFAD2–4). GhFAD2–3 is ubiquitously and relatively highly expressed in all analyzed tissues, particularly in anthers. Specific inhibition of GhFAD2–3 using the RNA interference approach resulted in male sterility due to impaired anther development at the stages from meiosis to maturation. The cellular phenotypic abnormality observed at the meiosis stage of the GhFAD2–3 silenced plant (fad2–3) coincides with the significant reduction of C18:2 in anthers at the same stage. Compared with that of the wild type (WT), the content of C18:1 was 41.48%, which increased by 5 fold in the fad2–3 anther at the pollen maturation stage. Moreover, the ratio of monounsaturated to polyunsaturated fatty acid was 5.43 in fad2–3 anther, which was much higher than that of the WT (only 0.39). Through compositional analysis of anthers cuticle and transcriptome data, we demonstrated it was unfavorable to the development of anther by regulating GhFAD2–3 expression level to increase the oleic acid content. Conclusions Our work demonstrated the importance of C18:2 and/or C18:3 in the development of the pollen exine and anther cuticle in cotton and provided clue for further investigation of the physiological significance of the fatty acid composition for plant growth and development.


Author(s):  
R. J McKinlay Gardner ◽  
David J Amor

Ring chromosomes are uncommon. The typical physical phenotype comprises major dysmorphogenesis and intellectual deficiency, and reproduction is not usually a relevant issue. A ring chromosome is formed due to an end-to-end fusion of chromosome tips. Almost always, the end result is an imbalance and significant phenotypic abnormality. Rarely, however, this is not the case. In this chapter, genetic risks for ring carriers for whom procreation is a realistic likelihood are considered. This chapter distinguishes between those with a normal 46 chromosome count, one being a ring, and those with a 47 chromosome count, the additional chromosome being a (necessarily small) ring.


Author(s):  
R. J McKinlay Gardner ◽  
David J Amor

This chapter reviews in detail the question of carriers of autosomal reciprocal translocations and the genetic risks implied for potential offspring of theirs. Examples are offered of the various possibilities due to malsegregation in gametes of theirs: adjacent-1, adjacent-2, 3:1, and the (very rare) 4:0 malsegregation. The chapter provides advice on determining the most likely modes of segregation, according to the different forms of translocation (length of centric segment, length of translocated segment, sizes of derivative chromosomes). The chapter discusses the practical problem of the apparently balanced translocation but which is associated with phenotypic abnormality. Associations with infertility are noted.


Author(s):  
K. N. Raja ◽  
R. Saravanan ◽  
P. Devendran ◽  
Pramod Kumar Singh ◽  
Anil Kumar Mishra ◽  
...  

Rajapalayam, an important dog breed of southern India which are maintained for guarding of farm houses and protection from wild animals. The aim of the present investigation is to study the karyology of this important dog population for cytological profiling. Metaphase plates were prepared after culturing of lymphocytes isolated from heparinized blood collected from animals of both the sexes. Giemsa banding, centromeric index, arm ratio and relative length were estimated through standard protocol. The cytogenetic profile of Rajapalayam dog is different from that of Chinese Raccoon and Japanese Raccoon dogs which belongs to Canidae family with a basic chromosome number of 78 without B chromosome. The X chromosomes are longer in bitches than that of in dogs. Giemsa banding analysis revealed higher number of bands (272) distributed among the 38 chromosome in Indian dog breed as compared to that Chinese Raccoon dog. The results of the present study gave insight knowledge to the researchers, dog breeders and kennel clubs about the karyology of Indian dog breeds and to know about any chromosomal abnormalities which may leads to fertility, growth and phenotypic abnormality related problems in this dog breed.


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