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Keywords = eyelid coloboma

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18 pages, 11628 KiB  
Article
Genomic Analysis Reveals Candidate Genes Underlying Sex-Linked Eyelid Coloboma, Feather Color Traits, and Climatic Adaptation in Huoyan Geese
by Junhui Wen, Jincheng Yu, Li Zhang, Haiying Li, Huie Wang, Hongchang Gu, Xiurong Zhao, Xinye Zhang, Xufang Ren, Gang Wang, Anqi Chen and Lujiang Qu
Animals 2023, 13(23), 3608; https://doi.org/10.3390/ani13233608 - 22 Nov 2023
Cited by 3 | Viewed by 1677
Abstract
Driven by natural and artificial selection, the domestic Huoyan geese from Northern China have gradually generated specific phenotypes and climatic adaptations. To understand the genetic basis of the two specific phenotypes that are sex linked, including upper eyelid coloboma and gosling feather color, [...] Read more.
Driven by natural and artificial selection, the domestic Huoyan geese from Northern China have gradually generated specific phenotypes and climatic adaptations. To understand the genetic basis of the two specific phenotypes that are sex linked, including upper eyelid coloboma and gosling feather color, as well as the climatic adaptations of the Huoyan goose, which can contribute to the artificial selection and breeding of geese. We selected Huoyan geese and nine Southern Chinese goose breeds and identified their divergence on the genomic level. Using selective sweep analysis, we found that PTPRM on chromosome Z influences the upper eyelid coloboma phenotype of the Huoyan goose, and TYRP1 is a plausible candidate gene for the Huoyan gosling feather color. We obtained a number of genes related to cold adaptation in Huoyan geese, mainly involved in physiological functions such as metabolism, angiogenesis contraction and circulatory system, apoptosis, immunity, stress, and neural system. The most interesting candidates for cold adaptation are PIP5K1B and NMNAT3 that are associated with energy metabolism and stress. We also obtained some genes related to heat adaptation, including AGTPBP1, associated with neurology; GDA, associated with skin pigmentation; and NAA35, associated with apoptosis. These findings deepen our understanding of the genetics of specific phenotypes and climate adaptation in local geese and provide insights for the selection of goose breeds. Full article
(This article belongs to the Section Poultry)
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13 pages, 20402 KiB  
Review
Treacher Collins Syndrome: Genetics, Clinical Features and Management
by Bożena Anna Marszałek-Kruk, Piotr Wójcicki, Krzysztof Dowgierd and Robert Śmigiel
Genes 2021, 12(9), 1392; https://doi.org/10.3390/genes12091392 - 9 Sep 2021
Cited by 42 | Viewed by 19284
Abstract
Treacher Collins syndrome (TCS) is associated with abnormal differentiation of the first and second pharyngeal arches, occurring during fetal development. Features of TCS include microtia with conductive hearing loss, slanting palpebral fissures with possibly coloboma of the lateral part of lower eyelids, midface [...] Read more.
Treacher Collins syndrome (TCS) is associated with abnormal differentiation of the first and second pharyngeal arches, occurring during fetal development. Features of TCS include microtia with conductive hearing loss, slanting palpebral fissures with possibly coloboma of the lateral part of lower eyelids, midface hypoplasia, micrognathia as well as sporadically cleft palate and choanal atresia or stenosis. TCS occurs in the general population at a frequency of 1 in 50,000 live births. Four subtypes of Treacher Collins syndrome exist. TCS can be caused by pathogenic variants in the TCOF1, POLR1D, POLR1C and POLR1B genes. Genetically, the TCOF1 gene contains 27 exons which encodes the Treacle protein. In TCOF1, over 200 pathogenic variants have been identified, of which most are deletions leading to a frame-shift, that result in the formation of a termination codon. In the presented article, we review the genetics and phenotype of TCS as well as the management and surgical procedures utilized for treatment. Full article
(This article belongs to the Section Genetic Diagnosis)
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