scholarly journals Structure and Sequence of the Sex Determining Locus in Two Wild Populations of Nile Tilapia

Genes ◽  
2020 ◽  
Vol 11 (9) ◽  
pp. 1017
Author(s):  
Cécile Triay ◽  
Matthew A. Conte ◽  
Jean-François Baroiller ◽  
Etienne Bezault ◽  
Frances E. Clark ◽  
...  
Keyword(s):  
Nile Tilapia ◽  
Genetic Manipulation ◽  
Stop Codon ◽  
Premature Stop Codon ◽  
Wild Populations ◽  
Linkage Groups ◽  
Sequence Coverage ◽  
Determination System ◽  
Males And Females ◽  
Sex Determination System

In domesticated strains of the Nile tilapia, phenotypic sex has been linked to genetic variants on linkage groups 1, 20 and 23. This diversity of sex-loci might reflect a naturally polymorphic sex determination system in Nile tilapia, or it might be an artefact arising from the process of domestication. Here, we searched for sex-determiners in wild populations from Kpandu, Lake Volta (Ghana-West Africa), and from Lake Koka (Ethiopia-East Africa) that have not been subjected to any genetic manipulation. We analysed lab-reared families using double-digest Restriction Associated DNA sequencing (ddRAD) and analysed wild-caught males and females with pooled whole-genome sequencing (WGS). Strong sex-linked signals were found on LG23 in both populations, and sex-linked signals with LG3 were observed in Kpandu samples. WGS uncovered blocks of high sequence coverage, suggesting the presence of B chromosomes. We confirmed the existence of a tandem amh duplication in LG23 in both populations and determined its breakpoints between the oaz1 and dot1l genes. We found two common deletions of ~5 kb in males and confirmed the presence of both amhY and amh∆Y genes. Males from Lake Koka lack both the previously reported 234 bp deletion and the 5 bp frameshift-insertion that creates a premature stop codon in amh∆Y.

scholarly journals Sex-determination and sex chromosomes are shared across the radiation of dioecious Nepenthes pitcher plants

2017 ◽  
Author(s):  
Mathias Scharmann ◽  
T. Ulmar Grafe ◽  
Faizah Metali ◽  
Alex Widmer
Keyword(s):  
Sex Determination ◽  
Sex Chromosomes ◽  
High Throughput Sequencing ◽  
Silene Latifolia ◽  
Wild Populations ◽  
Sequencing Data ◽  
Pitcher Plants ◽  
Determination System ◽  
Sex Determination System ◽  
Male Specific

AbstractPlants with separate sexes (dioecy) represent a minority but dioecy has evolved multiple times independently in plants. Our understanding of sex determination systems in plants and of the ecological factors and molecular changes associated with the evolution of dioecy remain limited. Here, we study the sex-determination system in dioecious plants that lack heteromorphic sex chromosomes and are not amenable to controlled breeding: Nepenthes pitcher plants. We genotyped wild populations of flowering males and females of three Nepenthes taxa using ddRAD-seq, and sequenced a male inflorescence transcriptome. We developed a novel statistical tool (privacy rarefaction) to distinguish true sex-specificity from stochastic noise in high-throughput sequencing data. Our results support XY-systems in all three Nepenthes taxa and in Silene latifolia which was used as a positive control for its known XY-system. The male-specific region of the Y chromosome showed little conservation among the three Nepenthes taxa, except for the essential pollen development gene DYT1 which was also male-specific in additional taxa. Hence, this homomorphic XY sex-determination system likely has a unique origin older than the crown of the genus Nepenthes at c. 17.7 My. In addition to the characterisation of the previously unknown sex chromosomes of Nepenthes, our work contributes an innovative, highly sensitive statistical method to efficiently detect sex-specific genomic regions in wild populations in general.

scholarly journals Sex chromosome evolution, heterochiasmy and physiological QTL in the salmonid Brook Charr Salvelinus fontinalis

2017 ◽  
Author(s):  
Ben J. G. Sutherland ◽  
Ciro Rico ◽  
Céline Audet ◽  
Louis Bernatchez
Keyword(s):  
Sex Determination ◽  
Sex Chromosomes ◽  
Genetic Architecture ◽  
Salvelinus Fontinalis ◽  
Sex Chromosome ◽  
Brook Charr ◽  
Determination System ◽  
Males And Females ◽  
Sex Determination System ◽  
Sex Determination Mechanisms

ABSTRACTWhole genome duplication can have large impacts on genome evolution, and much remains unknown about these impacts. This includes the mechanisms of coping with a duplicated sex determination system and whether this has an impact on increasing the diversity of sex determination mechanisms. Other impacts include sexual conflict, where alleles having different optimums in each sex can result in sequestration of genes into non-recombining sex chromosomes. Sex chromosome development itself may involve sex-specific recombination rate (i.e. heterochiasmy), which is also poorly understood. Family Salmonidae is a model system for these phenomena, having undergone autotetraploidization and subsequent rediploidization in most of the genome at the base of the lineage. The salmonid master sex determining gene is known, and many species have non-homologous sex chromosomes, putatively due to transposition of this gene. In this study, we identify the sex chromosome of Brook Charr Salvelinus fontinalis and compare sex chromosome identities across the lineage (eight species, four genera). Although non-homology is frequent, homologous sex chromosomes and other consistencies are present in distantly related species, indicating probable convergence on specific sex and neo-sex chromosomes. We also characterize strong heterochiasmy with 2.7-fold more crossovers in maternal than paternal haplotypes with paternal crossovers biased to chromosome ends. When considering only rediploidized chromosomes, the overall heterochiasmy trend remains, although with only 1.9-fold more recombination in the female than the male. Y chromosome crossovers are restricted to a single end of the chromosome, and this chromosome contains a large interspecific inversion, although its status between males and females remains unknown. Finally, we identify QTL for 21 unique growth, reproductive and stress-related phenotypes to improve knowledge of the genetic architecture of these traits important to aquaculture and evolution.

scholarly journals Exclusion of two microsatellite markers in the sex-linkage study of Nile tilapia (Oreochromis niloticus L.)

2019 ◽  
Vol 6 (1) ◽  
pp. 143-151
Author(s):  
Marufa Sultana Mitu ◽  
Antima Gani ◽  
Md Bakhtiar Abid ◽  
Sadia Nusrat Sharna ◽  
Farzana Yesmin ◽  
...  
Keyword(s):  
Sex Determination ◽  
Oreochromis Niloticus ◽  
Nile Tilapia ◽  
Polyacrylamide Gel Electrophoresis ◽  
Sex Linkage ◽  
Female Progeny ◽  
Male Progeny ◽  
Nile Tilapia Oreochromis Niloticus ◽  
Determination System ◽  
Sex Determination System

Monosex Nile tilapia (Oreochromis niloticus) is highly preferred in semi-intensive and intensive culture systems to prevent uncontrolled reproduction and to obtain fast growing male. Production of all male tilapia is being practiced by the hatcheries of Bangladesh mainly by administering androgen hormones (particularly 17-α-methyl-testosterone) with feed in a mixture of undifferentiated fry for about a month. The direct application of hormone to such food chain often arises question in respect to public health and safety. The alternative to this is the production of putative supermales, a rather safe but longer procedure to obtain all male progeny. However, sex determination system in tilapia is fairly complex. Recent developments have resulted in a linkage map and genetic markers that can be used to analyze the sex determination system. For genetic analysis of different genotypes of fish, microsatellite DNA marker ARO120 and ARO121 were used for studying the inheritance pattern for possible sex linkage using Polyacrylamide gel electrophoresis. In case of ARO120, it was observed that the Dam XX was heterozygous; 11 out of 22 female progeny and 10 out of 22 male progeny were found to be heterozygous. In case of ARO121, it was observed that the Dam XX was heterozygous; 16 out of 22 female progeny and 20 out of 22 male progeny were found to be heterozygous. Though the marker polymorphisms were observed in this study, these were excluded from the sexlinkage study due to limited extent of information as sex-linked markers in Nile tilapia BFRI strain. This study provides a baseline for further research using other suitable polymorphic markers for assisting marker-assisted selection. Res. Agric., Livest. Fish.6(1): 143-151, April 2019

scholarly journals Identification of sex-linked markers in the sexually cryptic coco de mer: are males and females produced in equal proportions?

AoB Plants ◽  
2019 ◽  
Vol 12 (1) ◽  
Author(s):  
Emma J Morgan ◽  
Christopher N Kaiser-Bunbury ◽  
Peter J Edwards ◽  
Mathias Scharmann ◽  
Alex Widmer ◽  
...  
Keyword(s):  
Sex Ratios ◽  
Differential Mortality ◽  
Sexually Dimorphic ◽  
Male And Female ◽  
Determination System ◽  
Males And Females ◽  
Heterogametic Sex ◽  
Sex Determination System ◽  
Male Specific ◽  
Genetically Determined

Abstract Lodoicea maldivica (coco de mer) is a long-lived dioecious palm in which male and female plants are visually indistinguishable when immature, only becoming sexually dimorphic as adults, which in natural forest can take as much as 50 years. Most adult populations in the Seychelles exhibit biased sex ratios, but it is unknown whether this is due to different proportions of male and female plants being produced or to differential mortality. In this study, we developed sex-linked markers in Lodoicea using ddRAD sequencing, enabling us to reliably determine the gender of immature individuals. We screened 589 immature individuals to explore sex ratios across life stages in Lodoicea. The two sex-specific markers resulted in the amplification of male-specific bands (Lm123977 at 405 bp and Lm435135 at 130 bp). Our study of four sub-populations of Lodoicea on the islands of Praslin and Curieuse revealed that the two sexes were produced in approximately equal numbers, with no significant deviation from a 1:1 ratio before the adult stage. We conclude that sex in Lodoicea is genetically determined, suggesting that Lodoicea has a chromosomal sex determination system in which males are the heterogametic sex (XY) and females are homogametic (XX). We discuss the potential causes for observed biased sex ratios in adult populations, and the implications of our results for the life history, ecology and conservation management of Lodoicea.

scholarly journals Microsatellites reveal male recombination and neo-sex chromosome formation in Scaptodrosophila hibisci (Drosophilidae)

2006 ◽  
Vol 87 (1) ◽  
pp. 33-43 ◽  
Author(s):  
ALEX C. C. WILSON ◽  
PAUL SUNNUCKS ◽  
D. G. BEDO ◽  
J. S. F. BARKER
Keyword(s):  
Linkage Group ◽  
Sex Chromosome ◽  
Linkage Groups ◽  
Male Recombination ◽  
Parsimonious Explanation ◽  
Determination System ◽  
Sib Families ◽  
Chromosome Formation ◽  
Sex Determination System ◽  
Aberrant Segregation

In drosophilid flies, male recombination and neo-sex chromosome formation are rare. Following the genotyping of full-sib families with 20 microsatellite markers and subsequent cytological work, we found evidence of both male recombination and neo-sex chromosome formation in Scaptodrosophila hibisci. As far as we are aware, this is the first report of male recombination and neo-sex chromosome formation co-occurring in a drosophilid fly. Two autosomal loci, Sh29c and Sh90, showed aberrant segregation of male parental alleles. We describe how an autosomal fission followed by fusion of one of the autosomal fragments to the Y chromosome to create a Y1Y2X1X2/X1X1X2X2 sex determination system provides the most parsimonious explanation of the patterns we observe. Male recombination was observed in three families, including autosomal linkage groups and the Y1/X2 linkage group. In addition to the X1 linkage group, two autosomal linkage groups were identified.

Ectopic Transcript Analysis Indicates that Allelic Exclusion is an Important Cause of Type I Protein C Deficiency in Patients with Nonsense and Frameshift Mutations in the PROC Gene

1996 ◽  
Vol 75 (06) ◽  
pp. 870-876 ◽  
Author(s):  
José Manuel Soria ◽  
Lutz-Peter Berg ◽  
Jordi Fontcuberta ◽  
Vijay V Kakkar ◽  
Xavier Estivill ◽  
...  
Keyword(s):  
Splice Site ◽  
Protein C ◽  
Stop Codon ◽  
Premature Stop Codon ◽  
Allelic Exclusion ◽  
Polymorphism Analysis ◽  
Type I ◽  
Protein C Deficiency ◽  
Nonsense Mutations ◽  
Stop Codons

SummaryNonsense mutations, deletions and splice site mutations are a common cause of type I protein C deficiency. Either directly or indirectly by altering the reading frame, these' lesions generate or may generate premature stop codons and could therefore be expected to result in premature termination of translation. In this study, the possibility that such mutations could instead exert their pathological effects at an earlier stage in the expression pathway, through “allelic exclusion” at the RNA level, was investigated. Protein C (PROC) mRNA was analysed in seven Spanish type I protein C deficient patients heterozygous for two nonsense mutations, a 7bp deletion, a 2bp insertion and three splice site mutations. Ectopic RNA transcripts from patient and control lymphocytes were analysed by RT-PCR and direct sequencing of amplified PROC cDNA fragments. The nonsense mutations and the deletion were absent from the cDNAs indicating that only mRNA derived from the normal allele had been expressed. Similarly for the splice site mutations, only normal PROC cDNAs were obtained. In one case, exclusion of the mutated allele could be confirmed by polymorphism analysis. In contrast to these six mutations, the 2 bp insertion was not associated with loss of mRNA from the mutated allele. In this case, cDNA analysis revealed the absence of 19 bases from the PROC mRNA consistent with the generation and utilization of a cryptic splice site 3’ to the site of mutation, which would result in a frameshift and a premature stop codon. It is concluded that allelic exclusion is a common causative mechanism in those cases of type I protein C deficiency which result from mutations that introduce premature stop codons

Induction of Translational Readthrough across the Thalassemia-Causing Premature Stop Codon in β-Globin-Encoding mRNA

Biochemistry ◽  
2019 ◽  
Vol 59 (1) ◽  
pp. 80-84 ◽  
Author(s):  
Debaleena Kar ◽  
Karthi Sellamuthu ◽  
Sangeetha Devi Kumar ◽  
Sandeep M. Eswarappa
Keyword(s):  
Stop Codon ◽  
Premature Stop Codon ◽  
Translational Readthrough

scholarly journals A Novel Truncating Mutation in HOMER2 Causes Nonsyndromic Progressive DFNA68 Hearing Loss in a Spanish Family

Genes ◽  
2021 ◽  
Vol 12 (3) ◽  
pp. 411
Author(s):  
María Lachgar ◽  
Matías Morín ◽  
Manuela Villamar ◽  
Ignacio del Castillo ◽  
Miguel Ángel Moreno-Pelayo
Keyword(s):  
Hearing Loss ◽  
Stop Codon ◽  
Coiled Coil ◽  
Premature Stop Codon ◽  
Scaffolding Protein ◽  
Common Mechanism ◽  
Chinese Family ◽  
Truncating Mutation ◽  
Spanish Family ◽  
Sensory Defect

Nonsyndromic hereditary hearing loss is a common sensory defect in humans that is clinically and genetically highly heterogeneous. So far, 122 genes have been associated with this disorder and 50 of them have been linked to autosomal dominant (DFNA) forms like DFNA68, a rare subtype of hearing impairment caused by disruption of a stereociliary scaffolding protein (HOMER2) that is essential for normal hearing in humans and mice. In this study, we report a novel HOMER2 variant (c.832_836delCCTCA) identified in a Spanish family by using a custom NGS targeted gene panel (OTO-NGS-v2). This frameshift mutation produces a premature stop codon that may lead in the absence of NMD to a shorter variant (p.Pro278Alafs*10) that truncates HOMER2 at the CDC42 binding domain (CBD) of the coiled-coil structure, a region that is essential for protein multimerization and HOMER2-CDC42 interaction. c.832_836delCCTCA mutation is placed close to the previously identified c.840_840dup mutation found in a Chinese family that truncates the protein (p.Met281Hisfs*9) at the CBD. Functional assessment of the Chinese mutant revealed decreased protein stability, reduced ability to multimerize, and altered distribution pattern in transfected cells when compared with wild-type HOMER2. Interestingly, the Spanish and Chinese frameshift mutations might exert a similar effect at the protein level, leading to truncated mutants with the same Ct aberrant protein tail, thus suggesting that they can share a common mechanism of pathogenesis. Indeed, age-matched patients in both families display quite similar hearing loss phenotypes consisting of early-onset, moderate-to-profound progressive hearing loss. In summary, we have identified the third variant in HOMER2, which is the first one identified in the Spanish population, thus contributing to expanding the mutational spectrum of this gene in other populations, and also to clarifying the genotype–phenotype correlations of DFNA68 hearing loss.

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