scholarly journals A non-coding region near Follistatin controls head colour polymorphism in the Gouldian finch

2018 ◽  
Vol 285 (1888) ◽  
pp. 20181788 ◽  
Author(s):  
Matthew B. Toomey ◽  
Cristiana I. Marques ◽  
Pedro Andrade ◽  
Pedro M. Araújo ◽  
Stephen Sabatino ◽  
...  
Keyword(s):  
Phenotypic Variability ◽  
Z Chromosome ◽  
Coding Region ◽  
Candidate Locus ◽  
Black Head ◽  
Nucleotide Divergence ◽  
Gouldian Finch ◽  
Polymorphic System ◽  
Colour Morphs

Discrete colour morphs coexisting within a single population are common in nature. In a broad range of organisms, sympatric colour morphs often display major differences in other traits, including morphology, physiology or behaviour. Despite the repeated occurrence of this phenomenon, our understanding of the genetics that underlie multi-trait differences and the factors that promote the long-term maintenance of phenotypic variability within a freely interbreeding population are incomplete. Here, we investigated the genetic basis of red and black head colour in the Gouldian finch ( Erythrura gouldiae ), a classic polymorphic system in which naturally occurring colour morphs also display differences in aggressivity and reproductive success. We show that the candidate locus is a small (approx. 70 kb) non-coding region mapping to the Z chromosome near the Follistatin ( FST ) gene. Unlike recent findings in other systems where phenotypic morphs are explained by large inversions containing hundreds of genes (so-called supergenes), we did not identify any structural rearrangements between the two haplotypes using linked-read sequencing technology. Nucleotide divergence between the red and black alleles was high when compared to the remainder of the Z chromosome, consistent with their maintenance as balanced polymorphisms over several million years. Our results illustrate how pleiotropic phenotypes can arise from simple genetic variation, probably regulatory in nature.

scholarly journals Viability, behaviour, and colour expression in the offspring of matings between common wall lizard Podarcis muralis colour morphs

2021 ◽  
Author(s):  
Javier Abalos ◽  
Guillem Pérez i de Lanuza ◽  
Alicia Bartolomé ◽  
Fabien Aubret ◽  
Tobias Uller ◽  
...  
Keyword(s):  
Reproductive Output ◽  
Balancing Selection ◽  
Phenotypic Variability ◽  
Investment Strategies ◽  
Podarcis Muralis ◽  
Common Wall ◽  
Genome Wide ◽  
Colour Morphs ◽  
Embryonic Viability

Abstract Colour polymorphisms are widely studied to identify the mechanisms responsible for the origin and maintenance of phenotypic variability in nature. Two of the mechanisms of balancing selection currently thought to explain the long-term persistence of polymorphisms are the evolution of alternative phenotypic optima through correlational selection on suites of traits including colour, and heterosis. Both of these mechanisms can generate differences in offspring viability and fitness arising from different morph combinations. Here, we examined the effect of parental morph combination on fertilisation success, embryonic viability, newborn quality, antipredator and foraging behaviour, as well as inter-annual survival by conducting controlled matings in a polymorphic lacertid Podarcis muralis, where colour morphs are frequently assumed to reflect alternative phenotypic optima (e.g. alternative reproductive strategies). Juveniles were kept in outdoor tubs for a year in order to study inter-annual growth, survival, and morph inheritance. In agreement with a previous genome-wide association analysis, morph frequencies in the year-old juveniles matched the frequencies expected if orange and yellow expression depended on recessive homozygosity at two separate loci. Our findings also agree with previous literature reporting higher reproductive output of heavy females and the higher overall viability of heavy newborn lizards, but we found no evidence for the existence of alternative breeding investment strategies in female morphs, or morph-combination effects on offspring viability and behaviour. We conclude that inter-morph breeding remains entirely viable and genetic incompatibilities are of little significance for the maintenance of discrete colour morphs in P. muralis from the Pyrenees.

scholarly journals Clinical characterization of 266 patients and family members with cleft lip and/or palate with associated malformations and syndromes

2021 ◽  
Author(s):  
Theodosia Bartzela ◽  
Björn Theuerkauf ◽  
Elisabeth Reichardt ◽  
Malte Spielmann ◽  
Charlotte Opitz
Keyword(s):  
Early Identification ◽  
Congenital Malformations ◽  
Cleft Lip ◽  
Phenotypic Variability ◽  
Family Members ◽  
Pierre Robin Sequence ◽  
Associated Malformations ◽  
Pierre Robin

Abstract Objectives To clinically characterize patients and family members with cleft lip and/or palate (CL/P) and associated congenital malformations or syndromes and propose possible inheritance patterns. Materials and methods An observational study of patients with CL/P, including medical and family history and intra- and extra-oral examination of their family members, was performed. Results Two hundred sixty-six patients, 1257 family members, and 42 pedigrees were included in the study. The distribution of patients according to the cleft type was 57.9% with CLP, 25.2% with cleft palate (CPO), and 12.8% with cleft lip with/without alveolus (CL/A). Seventy-four (27.8%) patients had associated malformations, and 24 (9.2%) a syndrome. The skeletal (27.7%), cardiovascular (19.3%) systems, and eyes (22.9%) were most commonly affected. Pierre Robin Sequence (7 patients) and van der Woude (4) were the most common syndromes. The majority of patients with CPO (19/24) had an associate syndrome. The families had an average of 2.45 affected members. Conclusion Individual and interfamilial phenotypic variability in patients with CL/P makes the understanding of etiopathogenesis challenging. Clinical relevance The overall prevalence of individuals with CL/P and their pedigrees with associated malformations and syndromes emphasize the need for early identification, interdisciplinary, and long-term planning.

scholarly journals Molecular analysis of the hot spot region related to length mutations in wheat chloroplast DNAs. I. Nucleotide divergence of genes and intergenic spacer regions located in the hot spot region.

Genetics ◽  
1991 ◽  
Vol 129 (3) ◽  
pp. 873-884 ◽  
Author(s):  
Y Ogihara ◽  
T Terachi ◽  
T Sasakuma
Keyword(s):  
Dna Sequences ◽  
Gene Evolution ◽  
Hot Spot ◽  
Intergenic Spacer ◽  
Open Reading Frames ◽  
Coding Region ◽  
Nucleotide Substitutions ◽  
Plant Groups ◽  
Nucleotide Divergence ◽  
Chloroplast Dnas

Abstract The nucleotide divergence of chloroplast DNAs around the hot spot region related to length mutation in Triticum (wheat) and Aegilops was analyzed. DNA sequences (ca. 4.5 kbp) of three chloroplast genome types of wheat complex were compared with one another and with the corresponding region of other grasses. The sequences region contained rbcL and psaI, two open reading frames, and a pseudogene, rpl23' (pseudogene for ribosomal protein L23) disrupted by AT-rich intergic spacer regions. The evolution of these genes in the closely related wheat complex is characterized by nonbiased nucleotide substitutions in terms of being synonymous/nonsynonymous, having A-T pressure transitions over transversions, and frequent changes at the third codon position, in contrast with the gene evolution among more distant plant groups where biased nucleotide substitutions have frequently occurred. The sequences of these genes had diverged almost in proportion to taxonomic distance. The sequence of the pseudogene rpl23' changed approximately two times faster than that of the coding region. Sequence comparison between the pseudogene and its protein-coding counterpart revealed different degrees of nucleotide homology in wheat, rice and maize, suggesting that the transposition timing of the pseudogene differed and/or that different rates of gene conversion operated on the pseudogene in the cpDNA of the three plant groups in Gramineae. The intergenic spacer regions diverged approximately ten times faster than the genes. The divergence of wheat from barley, and that from rice are estimated based on the nucleotide similarity to be 1.5, 10 and 40 million years, respectively.

Polymorphism of high energy materials

2020 ◽  
pp. 398-428
Author(s):  
Joel Bernstein
Keyword(s):  
Physical Stability ◽  
High Energy ◽  
Shock Pressure ◽  
Energy Materials ◽  
High Energy Materials ◽  
History Of ◽  
Polymorphic System ◽  
And Control ◽  
Molecular Compounds

The intimate connection between structure and properties is particularly acute in establishing the effectiveness and safety of high energy materials based on molecular compounds: chemical and physical stability, shelf-life, sensitivity to shock, pressure, and temperature. Compared to other classes of compounds treated in the book for which the polymorphs with less suitable properties are not chosen for use, and thus relegated to lower importance, for high energy materials the risks and dangers of lack of familiarity and control of the polymorphic system can entail considerable long-term risks. The chapter is divided into two major sections distinguishing between aliphatic materials and the aromatic materials, commonly known by their alphabetic moniker. Throughout the chapter the history of the development of many of these materials is provided, including some rather obscure references culled from formerly classified government research reports. A detailed discussion of the classic enigmatic polymorphism of trinitrotoluene (TNT) is presented.

A rare case of congenital hyperinsulinism (CHI) due to dual genetic aetiology involving HNF4A and ABCC8

2019 ◽  
Vol 32 (3) ◽  
pp. 301-304 ◽  
Author(s):  
Louise Apperley ◽  
Dinesh Giri ◽  
Jayne A.L. Houghton ◽  
Sarah E. Flanagan ◽  
Mohammed Didi ◽  
...  
Keyword(s):  
Phenotypic Variability ◽  
Standard Deviation Score ◽  
Male Infant ◽  
Compound Heterozygous ◽  
Congenital Hyperinsulinism ◽  
Hepatocyte Nuclear Factor 4 ◽  
Long Term Prognosis ◽  
Improved Glycaemic Control

Abstract Background Congenital hyperinsulinism (CHI) occurs due to an unregulated insulin secretion from the pancreatic β-cells resulting in hypoglycaemia. Causative mutations in multiple genes have been reported. Phenotypic variability exists both within and between different genetic subgroups. Case presentation A male infant born at 35+6 weeks’ gestation with a birth weight of 4.3 kg [+3.6 standard deviation score (SDS)] had recurrent hypoglycaemic episodes from birth. Biochemical investigations confirmed a diagnosis of CHI. Diazoxide was started and the dose was progressively increased to maintain euglycaemia. His father was slim and had been diagnosed with type 2 diabetes in his 30s. Sequence analysis identified a heterozygous hepatocyte nuclear factor 4 alpha (HNF4A) mutation (p.Arg245Pro, c.734G>C) and compound heterozygous ABCC8 mutations (p.Gly92Ser, c.274G>A and p.Ala1185Val, c.3554C>T) in the patient. The p.Ala1185Val ABCC8 mutation was inherited from his unaffected mother and the p.Arg245Pro HNF4A and p.Gly92Ser ABCC8 mutations from his father. All three mutations were predicted to be pathogenic. Identification of the HNF4A mutation in the father established a diagnosis of maturity-onset diabetes of the young (MODY), which enabled medication change resulting in improved glycaemic control. Conclusions We report a rare patient with CHI due to dual genetic aetiology. Although he is currently responsive to the maximum dose of diazoxide, the long-term prognosis remains unclear.

Paraoxonase activity and genetic polymorphisms in greenhouse workers with long term pesticide exposure

2003 ◽  
Vol 22 (11) ◽  
pp. 565-574 ◽  
Author(s):  
Antonio F Herńndez ◽  
Bharti Mackness ◽  
Lourdes Rodrigo ◽  
Olga López ◽  
Antonio Pla ◽  
...  
Keyword(s):  
Environmental Factors ◽  
Pesticide Exposure ◽  
Organophosphorus Compounds ◽  
Critical Role ◽  
Density Lipoprotein ◽  
Pon1 Activity ◽  
Coding Region ◽  
Serum Paraoxonase ◽  
Occupational Settings

Serum paraoxonase (PON1) is a high-density lipoprotein (HDL) associated protein, which plays a critical role in the pathogenesis of atherosclerosis, although it was primarily associated with the hydrolysis of organophosphorus compounds. PON1 was initially thought to be independent from physiological or pathological states, although recently some environmental factors have been reported to modulate its activity. In this study, we have investigated the promoter (PON1-108C/T and-909 C/G) and coding region (PON1 192Q/R and 55L/M) polymorphisms, as well as PON1 activity towards different substrates (paraoxon, phenylacetate and diazoxon) in 102 individuals with long term low dose exposure to pesticides in a plastic greenhouse setting (sprayers), who are probably the group of agricultural workers with the highest exposure to pesticides. PON1 activity towards paraoxon was nonsignificantly decreased (up to 53.5%) in the sprayers subgroup exposed to organophosphates (n-41) compared with nonsprayers acting as controls (n-39). None of the genotypes studied was associated significantly with the subgroup of individuals exposed to organophosphates, although differences between sprayers and nonsprayers were observed in the PON1-909 G/C polymorphism. Among the environmental factors that significantly predicted lower rates of PON1 activity towards paraoxon are, interestingly, the exposure to organophosphates and current smoking. By contrast, the utilization of protective clothing while spraying pesticides inside the greenhouses was positively associated with PON1 activity, very likely by preventing the pesticides from being absorbed. This study suggests that chronic exposure to pesticides might decrease PON1 activity and pinpoints the potential usefulness of monitoring PON1 activity in occupational settings where exposure to organophosphates occurs.

A Candidate Locus Approach Identifies a Long QT Syndrome Gene Mutation

2003 ◽  
Vol 5 (2) ◽  
pp. 97-104 ◽  
Author(s):  
Theresa A. Beery ◽  
Macaira Dyment ◽  
Kerry Shooner ◽  
Timothy K. Knilans ◽  
D. Woodrow Benson
Keyword(s):  
Potassium Channel ◽  
Long Qt Syndrome ◽  
Family Members ◽  
Torsades De Pointes ◽  
Sudden Onset ◽  
Coding Region ◽  
Long Qt ◽  
Candidate Locus ◽  
Qt Intervals ◽  
Qt Syndrome

Long QT syndrome is an inherited disorder that results in lengthened cardiac repolarization. It can lead to sudden onset of torsades de pointes, ventricular fibrillation, and death. The authors obtained a family history, performed electrocardiograms, and drew blood for DNA extraction and genotyping from 15 family members representing 4 generations of an affected family. Seven individuals demonstrated prolonged QT intervals. The authors used polymorphic short tandem repeat markers at known LQTS loci, which indicated linkage to chromosome 11p15.5 where the potassium channel, KCNQ1, is encoded. Polymerase chain reaction was used to amplify the coding region of KCNQ1. During survey of the KCNQ1 coding region, a G-to-A transition (G502A) was identified. DNA from all clinically affected but from none of the clinically unaffected family members carried the G-to-A transition. The candidate locus approach allowed an efficient mechanism to uncover the potassium channel mutation causing LQTS in this family.

scholarly journals Genetics and evidence for balancing selection of a sex-linked colour polymorphism in a songbird

2018 ◽  
Author(s):  
Kang-Wook Kim ◽  
Benjamin C. Jackson ◽  
Hanyuan Zhang ◽  
David P. L. Toews ◽  
Scott A. Taylor ◽  
...  
Keyword(s):  
Balancing Selection ◽  
Regulatory Region ◽  
Intermediate Frequency ◽  
Colour Polymorphism ◽  
Z Chromosome ◽  
Coalescent Simulations ◽  
Putative Regulatory Region ◽  
History Of ◽  
Gouldian Finch ◽  
Selection Of

AbstractColour polymorphisms play a key role in sexual selection and speciation, yet the mechanisms that generate and maintain them are not fully understood. Here, we use genomic and transcriptomic tools to identify the precise genetic architecture and evolutionary history of a sex-linked colour polymorphism in the Gouldian finch Erythrura gouldiae that is also accompanied by remarkable differences in behaviour and physiology. We find that differences in colour are associated with an ~72-kbp region of the Z chromosome in a putative regulatory region for follistatin, an antagonist of the TGF-β superfamily genes. The region is highly differentiated between morphs, unlike the rest of the genome, yet we find no evidence that an inversion is involved in maintaining the distinct haplotypes. Coalescent simulations confirm that there is elevated nucleotide diversity and an excess of intermediate frequency alleles at this locus. We conclude that this pleiotropic colour polymorphism is most probably maintained by balancing selection.

scholarly journals Mutation screening of familial Mediterranean fever in the Azeri Turkish population: Genotype-phenotype correlation and the clinical profile variability

Genetika ◽  
2014 ◽  
Vol 46 (2) ◽  
pp. 611-620
Author(s):  
Jalal Gharesouran ◽  
Maryam Rezazadeh ◽  
Morteza Ghojazadeh ◽  
Mohaddes Ardabili
Keyword(s):  
Renal Failure ◽  
Familial Mediterranean Fever ◽  
Clinical Symptoms ◽  
Phenotypic Variability ◽  
Mutation Screening ◽  
Turkish Population ◽  
Coding Region ◽  
Frequent Mutations ◽  
Mediterranean Fever ◽  
Frequency Changes

Familial Mediterranean fever is known as a most frequent hereditary autoin-Xammatory among the autoinflammatory syndromes characterized by fever, arthritis and serosal inflammation. Clinically, the foremost severe symptom of the disease is amyloidosis, which may cause to renal failure. MEFV renal failure consists of ten exons and conservative mutations clustered in exon ten (M694V, V726A, M680I, M694I) and exon two (E148Q) are considered more common mutations within this coding region and that they are detected with a distinct frequency changes in line with ethnicity. The aim of this study was to research the spectrum of mutations in Azeri Turkish population. We evaluated the molecular test results of 82 patients and their parents from eighty families identified as having FMF clinical symptoms referred to Molecular Genetics Laboratory of the Department of Medical Genetics. Patients were referred by their physicians for MEFV mutation detection. The most frequent mutations were M694V respectively followed by M680I (G/C), V726A, M694I and E148Q mutations. A phenotypic variability was also ascertained between patients with different mutations and it must be considered within the daily management of FMF patients.

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