scholarly journals Sequence variation in the coding region of the melanocortin-1 receptor gene ( MC1R ) is not associated with plumage variation in the blue-crowned manakin ( Lepidothrix coronata )

2006 ◽  
Vol 273 (1594) ◽  
pp. 1613-1618 ◽  
Author(s):  
Z.A Cheviron ◽  
Shannon J Hackett ◽  
Robb T Brumfield

Avian plumage traits are the targets of both natural and sexual selection. Consequently, genetic changes resulting in plumage variation among closely related taxa might represent important evolutionary events. The molecular basis of such differences, however, is unknown in most cases. Sequence variation in the melanocortin-1 receptor gene ( MC1R ) is associated with melanistic phenotypes in many vertebrate taxa, including several avian species. The blue-crowned manakin ( Lepidothrix coronata ), a widespread, sexually dichromatic passerine, exhibits striking geographic variation in male plumage colour across its range in southern Central America and western Amazonia. Northern males are black with brilliant blue crowns whereas southern males are green with lighter blue crowns. We sequenced 810 bp of the MC1R coding region in 23 individuals spanning the range of male plumage variation. The only variable sites we detected among L. coronata sequences were four synonymous substitutions, none of which were strictly associated with either plumage type. Similarly, comparative analyses showed that L. coronata sequences were monomorphic at the three amino acid sites hypothesized to be functionally important in other birds. These results demonstrate that genes other than MC1R underlie melanic plumage polymorphism in blue-crowned manakins.

2013 ◽  
Vol 6 (1) ◽  
pp. 310 ◽  
Author(s):  
Romain Derelle ◽  
Fyodor A Kondrashov ◽  
Vladimir Y Arkhipov ◽  
Hélène Corbel ◽  
Adrien Frantz ◽  
...  

Genetics ◽  
2001 ◽  
Vol 158 (3) ◽  
pp. 1253-1268 ◽  
Author(s):  
Kateryna D Makova ◽  
Michele Ramsay ◽  
Trefor Jenkins ◽  
Wen-Hsiung Li

AbstractAn ∼6.6-kb region located upstream from the melanocortin 1 receptor (MC1R) gene and containing its promoter was sequenced in 54 humans (18 Africans, 18 Asians, and 18 Europeans) and in one chimpanzee, gorilla, and orangutan. Seventy-six polymorphic sites were found among the human sequences and the average nucleotide diversity (π) was 0.141%, one of the highest among all studies of nuclear sequence variation in humans. Opposite to the pattern observed in the MC1R coding region, in the present region π is highest in Africans (0.136%) compared to Asians (0.116%) and Europeans (0.122%). The distributions of π, θ, and Fu and Li's F-statistic are nonuniform along the sequence and among continents. The pattern of genetic variation is consistent with a population expansion in Africans. We also suggest a possible phase of population size reduction in non-Africans and purifying selection acting in the middle subregion and parts of the 5′ subregion in Africans. We hypothesize diversifying selection acting on some sites in the 5′ and 3′ subregions or in the MC1R coding region in Asians and Europeans, though we cannot reject the possibility of relaxation of functional constraints in the MC1R gene in Asians and Europeans. The mutation rate in the sequenced region is 1.65 × 10—9 per site per year. The age of the most recent common ancestor for this region is similar to that for the other long noncoding regions studied to date, providing evidence for ancient gene genealogies. Our population screening and phylogenetic footprinting suggest potentially important sites for the MC1R promoter function.


2018 ◽  
Vol 26 (4) ◽  
pp. 251-257
Author(s):  
Sandriéllem Natália Vieira ◽  
Juliana Araripe ◽  
Alexandre Aleixo ◽  
Péricles Sena do Rêgo

2021 ◽  
Author(s):  
Anna Cremonini ◽  
Luca Saragoni ◽  
Luca Morandi ◽  
Angelo G. Corradini ◽  
Caterina Ravaioli ◽  
...  

AbstractCarcinomas with apocrine differentiation (CAD) of the breast are rare tumours typically presenting high immunohistochemical expression of androgen receptor (AR) which is a target molecule for personalised therapy. To date, no studies have evaluated the genetic changes that are associated with AR immunohistochemical expression in CADs. The present work aims to characterise AR status in CADs. Twenty CAD tumours were studied with immunohistochemistry, in situ fluorescence hybridization and DNA methylation analysis, to evaluate AR expression and its regulator status. All tumours demonstrated high AR immunohistochemical expression, with over 95% of the neoplastic cells showing AR positivity in 19/20 cases. CADs showed AR gene copy loss in a percentage of neoplastic cells ranging from 5 to 84% (mean 48.93%). AR regulator genes, including the MAGE family, UXT and FLNA, presented variable methylation levels, but were mainly hypomethylated and therefore all transcriptionally active. The results of this study indicate that CADs present AR monosomy, paralleled by higher transcriptional activity of the gene with potential to influence response to AR deprivation therapy.


Recent advances in nucleic acid technology have facilitated the detection and detailed structural analysis of a wide variety of genes in higher organisms, including those in man. This in turn has opened the way to an examination of the evolution of structural genes and their surrounding and intervening sequences. In a study of the evolution of haemoglobin genes and neighbouring sequences in man and the primates, we have investigated gene arrangement and DNA sequence divergence both within and between species ranging from Old World monkeys to man. This analysis is beginning to reveal the evolutionary constraints that have acted on this region of the genome during primate evolution. Furthermore, DNA sequence variation, both within and between species, provides, in principle, a novel and powerful method for determining inter-specific phylogenetic distances and also for analysing the structure of present-day human populations. Application of this new branch of molecular biology to other areas of the human genome should prove important in unravelling the history of genetic changes that have occurred during the evolution of man.


2018 ◽  
Vol 55 (4) ◽  
pp. 233-238 ◽  
Author(s):  
Miho Kageyama ◽  
Atsushi Takenouchi ◽  
Keiji Kinoshita ◽  
Yoshiaki Nakamura ◽  
Masaoki Tsudzuki

2015 ◽  
Vol 156 (33) ◽  
pp. 1348-1352
Author(s):  
Stelios Mavrogenis ◽  
Endre Czeizel

The healthy couple had five sons with hypospadias (glandular 1, coronal 4) without other child. Similar familial cluster has not reported in the sons of European parents without consanguinity. Mild form androgen insensitivity syndrome was expected in these 5 boys because of the X-linked androgen receptor gene, however, sequencing of the entire coding region (exons 1-8) and all intron-exon boundaries of the androgen receptor gene did not reveal abnormality and the CAG repeat was found in the normal range (21 repeats). This extreme familial cluster may help us to elucidate gene polymorphisms in the polygenic background of the multifactorial origin of isolated hypospadias. Therefore, the authors collaborate with a genetic institute in Pittsburg, USA to perform whole genome sequencing in these probands and their parents. Orv. Hetil., 2015, 156(33), 1348–1352.


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