Genetic variation in regulatory <scp>DNA</scp> elements: the case of <i><scp>OCA</scp>2</i> transcriptional regulation

Visser, Mijke; Kayser, Manfred; Grosveld, Frank; Palstra, Robert-Jan

doi:10.1111/pcmr.12210

Cited by 33 publications

(32 citation statements)

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“…Several reports suggest that certain SNP can increase the expression of their mRNA transcripts or proteins (Wojnowski and Brockmoller, 2004;Visser et al, 2014). Even for heterozygous individuals it has been reported that SNP could alter the expression of ABCG2 (Kobayashi et al, 2005).…”

Section: Short Communicationmentioning

confidence: 98%

Short communication: The gain-of-function Y581S polymorphism of the ABCG2 transporter increases secretion into milk of danofloxacin at the therapeutic dose for mastitis treatment

Otero

Barrera

Fuente

et al. 2015

Journal of Dairy Science

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The ATP-binding cassette transporter ABCG2 restricts the exposure of certain drugs and natural compounds in different tissues and organs. Its expression in the mammary gland is induced during lactation and is responsible for the active secretion of many compounds into milk, including antimicrobial agents. This particular function of ABCG2 may affect drug efficacy against mastitis and the potential presence of drug residues in the milk. Previous in vitro and in vivo studies showed increased transport of several compounds, including fluoroquinolones, by the bovine ABCG2 Y581S polymorphism. Our main purpose was to study the potential effect of this bovine ABCG2 polymorphism on the secretion into milk of the antimicrobial danofloxacin administered at the therapeutic dose of 6mg/kg used for mastitis treatment. In addition, the effect of this polymorphism on the relative mRNA and protein levels of ABCG2 by quantitative real-time PCR and Western blot were studied. Danofloxacin 18% (6mg/kg) was administered to 6 Y/Y homozygous and 5 Y/S heterozygous cows. Danofloxacin levels in milk and milk-to-plasma concentration ratios were almost 1.5- and 2-fold higher, respectively, in Y/S cows compared with the Y/Y cows, showing a higher capacity of this variant to transport danofloxacin into milk. Furthermore, the higher activity of this polymorphism is not linked to higher ABCG2 mRNA or protein levels. These results demonstrate the relevant effect of the Y581S polymorphism of the bovine ABCG2 transporter in the secretion into milk of danofloxacin after administration of 6mg/kg, with potentially important consequences for mastitis treatment and for milk residue handling.

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Section: Short Communicationmentioning

confidence: 98%

Short communication: The gain-of-function Y581S polymorphism of the ABCG2 transporter increases secretion into milk of danofloxacin at the therapeutic dose for mastitis treatment

Otero

Barrera

Fuente

et al. 2015

Journal of Dairy Science

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“…Several cave forms (Pachon, Molino, and Micos) have accumulated different loss‐of‐function mutations in the ocular and albinism‐2 ( Oca2 ) gene, resulting in abnormal melanin synthesis (Protas et al, ; Gross and Wilkens, ). Although the exact function of Oca2 is unclear, it is the most commonly mutated gene associated with albinism in humans (Visser et al, ). Other cavefish populations, including some that exhibit albinism, also have accumulated mutations in the melanocortin‐1 receptor ( Mc1r ) gene resulting in a reduction in the number of melanophores and melanin pigmentation (Gross et al, ).…”

Section: Troglomorphy In Cavefishes and Salamandersmentioning

confidence: 99%

Extreme Adaptation in Caves

Soares

Niemiller

2018

The Anatomical Record

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Cave adaptation leads to unique anatomical specializations in many taxonomic groups. As the role of vision is reduced or disappears in a subterranean environment, other specializations arise to allow the organism to successfully detect and interact with their environment. A suite of unique, convergent phenotypes associated with subterranean adaptation has emerged (termed troglomorphy), with reduction or loss of pigmentation and eyes being the most conspicuous. Two vertebrate groups that have successfully colonized and adapted to subterranean environments are cavefishes and cave salamanders. There are many shared troglomorphic anatomical characters shared between these two groups, and we describe herein the morphological traits that are unique to fishes and salamanders that are adapted to caves and other subterranean habitats. Troglobionts, animals strictly bound and adapted to underground habitats, are outcomes of not just regressive evolution, but also constructive adaptation. There are skeletal changes, such as broadening and flattening of the head, as well as hypertrophy of non-visual modalities. Cavefishes and salamanders have lost eyes and pigmentation, but also enhanced mechanosenzation, chemosenzation and, in some cases, electroreception. Both cavefishes and cave salamanders have become important models in the study of the ecology, behavior, and evolution of subterranean colonization and adaptation. However, our knowledge is primarily limited to a few taxa and many questions remain to be studied. Anat Rec, 303:15-23, 2020.

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“…OCA type 5, type 6, and type 7 are three recently identified types of nonsyndromic OCA. Type 5 has been mapped to the human chromosome 4q24, which is a novel locus for nonsyndromic OCA (Kamaraj et al, 2014;Visser, Kayser, Grosveld, & Palstra, 2014), and type 6 and type 7 are respectively caused by mutations in SLC24A5 and C10orf11 (Wei et al, 2013). In Chinese Han population, comprehensive molecular analysis has revealed the spectral distribution of Chinese OCA: the three commonest types are OCA type 1, OCA type 2, and OCA type 4 with the prevalence of 64.3%, 11.7%, and 15.6%, respectively (Wei, Zang, Zhang, Yang, & Li, 2015).…”

Section: Introductionmentioning

confidence: 99%

Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism

Yan¹,

Chen

Yang

et al. 2019

Molec Gen & Gen Med

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Background Oculocutaneous albinism (OCA) is a group of heterogeneous autosomal recessive genetic disorder of melanin synthesis results in hypopigmented hair, skin, and eyes. OCA type 1, OCA type 2, and OCA type 4, which are respectively caused by mutations in TYR , OCA2, and SLC45A2 have high morbidity rates in Asia. Methods TYR , OCA2, and SLC45A2 mutation analysis was carried out on 18 nonconsanguineous OCA patients and four fetuses were included for prenatal diagnose. Three genes of all individuals were amplified by polymerase chain reaction and examined by Sanger sequencing. The pathogenicity of the detected mutations were analyzed by Mutation Taster, PolyPhen 2, and SIFT software, and the conservation of the substituted amino acids were analyzed by MEGA software. Results Eleven TYR mutations, three OCA2 mutations, and two SLC45A2 mutations were identified in 14 OCA type 1 patients, two OCA type 2 patients, and two OCA type 4 patients. c.1021A>G, p.R341G in TYR , c.1096_1104del, p.V366*, and c.1079C>T, p.S360F in OCA2 were novel. One of the four fetuses carried compound heterozygous mutation of TYR and became spontaneous abortion, the other three carried no mutations and appeared normal at birth. Conclusion In this study, specific clinical characteristics of OCA patients were described. Three novel pathogenic mutations were identified which will enrich the mutation spectrum of OCA, and the prenatal genetic screening in fetus at risk of OCA can provide vital information for genetic counseling.

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Genetic variation in regulatory DNA elements: the case of OCA2 transcriptional regulation

Cited by 33 publications

References 87 publications

Short communication: The gain-of-function Y581S polymorphism of the ABCG2 transporter increases secretion into milk of danofloxacin at the therapeutic dose for mastitis treatment

Short communication: The gain-of-function Y581S polymorphism of the ABCG2 transporter increases secretion into milk of danofloxacin at the therapeutic dose for mastitis treatment

Extreme Adaptation in Caves

Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism

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