Ontology highlight
ABSTRACT:
PROVIDER: PRJNA679326 | ENA |
REPOSITORIES: ENA
Dataset's files
| Action | DRS | |||
|---|---|---|---|---|
| SRR13102346.fastq.gz | Fastqsanger.gz | |||
| SRR13102347.fastq.gz | Fastqsanger.gz | |||
| SRR13102348.fastq.gz | Fastqsanger.gz | |||
| SRR13102349.fastq.gz | Fastqsanger.gz | |||
| SRR13102350_1.fastq.gz | Fastqsanger.gz |
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Project description:The domesticated rock pigeon (Columba livia) has been bred for hundreds of years to display an immense variety of ornamental attributes such as feather color and color patterns. Color is influenced by multiple loci that impact the type and amount of melanin deposited on the feathers. Pigeons homozygous for the “recessive red” mutation, which causes downregulation of Sox10, display brilliant red feathers instead of blue/black feathers. Sox10 encodes a transcription factor important for melanocyte differentiation and function, but the genes that mediate its promotion of black vs. red pigment are unknown. Here, we present a transcriptomic comparison of regenerating feathers from wild-type and recessive red pigeons to identify candidate SOX10 targets. Our results identify both known and novel targets, including many genes not previously implicated in pigmentation. These data highlight the value of using novel, emerging model organisms to gain insight into the genetic basis of pigment variation.
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Project description:MITF, a gene that is mutated in familial melanoma and Waardenburg syndrome, encodes multiple isoforms expressed from alternative promoters that share common coding exons but have unique amino termini. It is not completely understood how these isoforms influence pigmentation in different tissues and how expression of these independent isoforms of MITF are regulated. Here, we show that melanocytes express two isoforms of MITF, MITF-A and MITF-M. Expression of MITF-A is partially regulated by a newly identified retinoid enhancer element located upstream of the MITF-A promoter. Mitf-A knockout mice have only subtle changes in melanin accumulation in the hair and reduced Tyr expression in the eye. In contrast, Mitf-M null mice have enlarged kidneys, lack neural crest derived melanocytes in the skin, choroid, and iris stroma; yet maintain pigmentation within the retinal pigment epithelium and iris pigment epithelium of the eye. Taken together, these studies identify a critical role for MITF-M in melanocytes, a minor role for MITF-A in regulating pigmentation in the hair and Tyr expression in the eye, and a novel role for MITF-M in size control of the kidney.
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Project description:The human iris tissue is a thin, circular structure in the eye and it is made up of a pigmented epithelial structure. It is a protected internal organ of the eye, located behind the cornea and the aqueous humour. Iris serves main function to control the diameter, size of the pupil and regulation of light exposure to the internal eye structures. Damage or absent iris always results in allowing excess amount of light into the eye which causes medical problem for the patient and also a psychological problem due to strange eye with black hole. A damaged or congenitally defective iris does not function well which results in poor quality of vision. Although different efforts have been made to elucidate the different parts of the human eye proteome in depth, the protein composition of the human iris tissue remains largely unexplored. We have performed a comprehensive analysis of the human iris tissue employing protein and peptide fractionation methods followed by LC-MS/MS identifying 4918 proteins. Bioinformatics analysis revealed that protein components of the iris tissue participated in a plethora of biological process highlighting cell signal transduction, communication, metabolism, energy pathways protein metabolism cell growth and maintenance, transport and immune response activities. We also compared the proteins of iris tissue with high throughput studies on other parts of eye and plasma proteome, which resulted in identifying proteins unique to iris. To our knowledge, this study is the first attempt to profile the global proteome of the human iris tissue. Taken together, these results increase our knowledge about the molecular composition of the human iris tissue and may be useful to understand the molecular basis of the iris and the baseline proteome described in this study should serve as a resource for future research in iris tissue
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