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1. Inversions are bigger on the X chromosome

Author:
Cheng, Changde; Kirkpatrick, Mark
Source:
Molecular ecology 2019 v.28 no.6 pp. 1238-1245
ISSN:
0962-1083
Subject:
X chromosome,   etc   ; Anopheles; Bayesian theory; Drosophila; genes; genetic models; insects;     Show all 7 Subjects
Abstract:
... In many insects, X‐linked inversions fix at a higher rate and are much less polymorphic than autosomal inversions. Here, we report that in Drosophila, X‐linked inversions also capture 67% more genes. We estimated the number of genes captured through an approximate Bayesian computational analysis of gene orders in nine species of Drosophila. X‐linked inversions fixed with a significantly larger gen ...
DOI:
10.1111/mec.14819

2. Spectrum of X-linked intellectual disabilities and psychiatric symptoms in a family harbouring a Xp22.12 microduplication encompassing the RPS6KA3 gene

Author:
Uliana, Vera; Bonatti, Francesco; Zanatta, Valentina; Mozzoni, Paola; Martorana, Davide; Percesepe, Antonio
Source:
Journal of genetics 2019 v.98 no.1 pp. 10
ISSN:
0022-1333
Subject:
X chromosome,   etc   ; copy number variation; females; genes; males;     Show all 5 Subjects
Abstract:
... Microduplications of the X chromosome are a rare cause of X-linked intellectual disability (XLID), a clinically and genetically heterogeneous spectrum of disorders. In the present study, a 950-kb Xp22.12 microduplication including the RPS6KA3 gene was detected in affected members of a family, including the proband (male), his mother and one maternal uncle. Four female carriers had major depression ...
DOI:
10.1007/s12041-019-1055-8

3. SMCHD1 Merges Chromosome Compartments and Assists Formation of Super-Structures on the Inactive X

Author:
Wang, Chen-Yu; Jégu, Teddy; Chu, Hsueh-Ping; Oh, Hyun Jung; Lee, Jeannie T.
Source:
Cell 2018 v.174 no.2 pp. 406-421.e25
ISSN:
0092-8674
Subject:
X chromosome,   etc   ; heterochromatin; mammals; models;     Show all 4 Subjects
Abstract:
... Mammalian chromosomes are partitioned into A/B compartments and topologically associated domains (TADs). The inactive X (Xi) chromosome, however, adopts a distinct conformation without evident compartments or TADs. Here, through exploration of an architectural protein, structural-maintenance-of-chromosomes hinge domain containing 1 (SMCHD1), we probe how the Xi is reconfigured during X chromosome ...
DOI:
10.1016/j.cell.2018.05.007

4. Synergy between Variant PRC1 Complexes Defines Polycomb-Mediated Gene Repression

Author:
Fursova, Nadezda A.; Blackledge, Neil P.; Nakayama, Manabu; Ito, Shinsuke; Koseki, Yoko; Farcas, Anca M.; King, Hamish W.; Koseki, Haruhiko; Klose, Robert J.
Source:
Molecular cell 2019 v.74 no.5 pp. 1020-1036.e8
ISSN:
1097-2765
Subject:
X chromosome,   etc   ; chromatin; embryonic stem cells; gene expression; genes; genomics; mice;     Show all 7 Subjects
Abstract:
... The Polycomb system modifies chromatin and plays an essential role in repressing gene expression to control normal mammalian development. However, the components and mechanisms that define how Polycomb protein complexes achieve this remain enigmatic. Here, we use combinatorial genetic perturbation coupled with quantitative genomics to discover the central determinants of Polycomb-mediated gene rep ...
DOI:
10.1016/j.molcel.2019.03.024

5. Cytomolecular analysis of the male sex chromosome of Tropidacris cristata grandis (Thunberg, 1824) (Orthoptera: Romaleidae)

Author:
Baldissera, Joana Neres Cruz; Pine, Mariana Bozina; Lopes, Thayná Bisson Ferraz; Dias, Felipe Cordeiro; de Domenico, Fernando Campos; da Rosa, Renata
Source:
Entomological science 2019 v.22 no.1 pp. 80-85
ISSN:
1343-8786
Subject:
X chromosome,   etc   ; DNA; Orthoptera; autosomes; chromosome painting; genomics; grasshoppers; heterochromatin; hybridization; males; meiosis;     Show all 11 Subjects
Abstract:
... Many species of grasshopper have an XX/XO sex chromosome system, including Tropidacris cristata grandis (23, XX/XO). The X chromosome behaves differently from the autosomes, but little is known about its origin and molecular composition. To better understand the genomic composition and evolutionary processes involved in the origin of the sex chromosomes, we undertook an analysis of its meiotic beh ...
DOI:
10.1111/ens.12338

6. RBMX family proteins connect the fields of nuclear RNA processing, disease and sex chromosome biology

Author:
Elliott, David J.; Dalgliesh, Caroline; Hysenaj, Gerald; Ehrmann, Ingrid
Source:
The international journal of biochemistry & cell biology 2019 v.108 pp. 1-6
ISSN:
1357-2725
Subject:
X chromosome,   etc   ; DNA repair; RNA; RNA-binding proteins; Y chromosome; genes; mammals; neoplasms; transcription (genetics);     Show all 9 Subjects
Abstract:
... RBMX is a ubiquitously expressed nuclear RNA binding protein that is encoded by a gene on the X chromosome. RBMX belongs to a small protein family with additional members encoded by paralogs on the mammalian Y chromosome and other chromosomes. These RNA binding proteins are important for normal development, and also implicated in cancer and viral infection. At the molecular level RBMX family prote ...
DOI:
10.1016/j.biocel.2018.12.014

7. Characterization of the extra copy of TPOX locus with tri-allelic pattern

Author:
Yang, Qinrui; Liu, Baonian; Shao, Chengchen; Zhou, Yuxiang; Yao, Yining; Pan, Yuyin; Sun, Kuan; Xu, Hongmei; Li, Chengtao; Wei, Ting; Zhou, Yueqin; Tang, Qiqun; Xie, Jianhui
Source:
BMC genetics 2019 v.20 no.1 pp. 18
ISSN:
1471-2156
Subject:
X chromosome,   etc   ; alleles; bioinformatics; chromosome duplication; forensic sciences; humans; iodide peroxidase; loci; parents; progeny; sequence analysis; Africa;     Show all 12 Subjects
Abstract:
... BACKGROUND: An STR locus with tri-allelic pattern is occasionally observed in routine forensic casework. The extra copy of TPOX locus with tri-allelic pattern in populations has been assumed to be inserted into an X chromosome, which took place forth before the Bantu expansion in Africa. Nonetheless, the exact location of the duplication and the form of rearrangement in the human genome has not be ...
DOI:
10.1186/s12863-019-0723-2

8. Influence of X-chromosome markers on reproductive traits of beef cattle

Author:
Carvalho, Caio Victor Damasceno; Hermisdorff, Isis da Costa; Souza, Isadora Saraiva; Junqueira, Gleb Strauss Borges; Magalhães, Ana Fabricia Braga; Fonseca, Larissa Fernanda Simielli; de Albuquerque, Lucia Galvão; Tonhati, Humberto; Carvalheiro, Roberto; de Camargo, Gregório Miguel Ferreira; Costa, Raphael Bermal
Source:
Livestock science 2019 v.220 pp. 152-157
ISSN:
1871-1413
Subject:
X chromosome,   etc   ; Nellore; autosomes; beef cattle; calving; cows; female reproductive system; genes; linkage disequilibrium; phenotype; pleiotropy; pregnancy; reproductive traits;     Show all 13 Subjects
Abstract:
... Sex chromosomes are generally excluded from genomic analyses, although X chromosome is the second largest chromosome and harbors many genes. The objective of this study was to evaluate the effect of X chromosome by identifying its regions associated with reproductive traits in Nelore cows through a genome-wide association and by estimating its linkage disequilibrium. Phenotypic data of 76,845 and ...
DOI:
10.1016/j.livsci.2018.12.021

9. The Implication of Early Chromatin Changes in X Chromosome Inactivation

Author:
Żylicz, Jan Jakub; Bousard, Aurélie; Žumer, Kristina; Dossin, Francois; Mohammad, Eusra; da Rocha, Simão Teixeira; Schwalb, Björn; Syx, Laurène; Dingli, Florent; Loew, Damarys; Cramer, Patrick; Heard, Edith
Source:
Cell 2019 v.176 no.1-2 pp. 182-197.e23
ISSN:
0092-8674
Subject:
X chromosome,   etc   ; chromatin; coatings; embryonic stem cells; females; gene silencing; genes; histones; mice; temporal variation; transcription (genetics); ubiquitination;     Show all 12 Subjects
Abstract:
... During development, the precise relationships between transcription and chromatin modifications often remain unclear. We use the X chromosome inactivation (XCI) paradigm to explore the implication of chromatin changes in gene silencing. Using female mouse embryonic stem cells, we initiate XCI by inducing Xist and then monitor the temporal changes in transcription and chromatin by allele-specific p ...
DOI:
10.1016/j.cell.2018.11.041

10. Chromosome evolution and phylogeny in Ronderosia (Orthoptera, Acrididae, Melanoplinae): clues of survivors to the challenge of sympatry?

Author:
Castillo, Elio R.D.; Martí, Dardo A.; Maronna, Maximiliano M.; Scattolini, María C.; Cabral‐de‐Mello, Diogo C.; Cigliano, María M.
Source:
Systematic entomology 2019 v.44 no.1 pp. 61-74
ISSN:
0307-6970
Subject:
X chromosome,   etc   ; Acrididae; autosomes; chromosome aberrations; crossing over; grasshoppers; internal transcribed spacers; karyotyping; male genitalia; models; monophyly; sympatry; topology;     Show all 13 Subjects
Abstract:
... In an attempt to unveil the origin of neo‐sex chromosomes in Ronderosia Cigliano grasshoppers, we performed a combined phylogenetic analysis based on morphological (external morphology and male genitalia) and molecular data (COI, COII, 16S and ITS2) to explore the chromosome evolution within the genus. We also analysed the distributional patterns of the various Ronderosia species and considered th ...
DOI:
10.1111/syen.12317

11. Increase in viability due to the accumulation of X chromosome mutations in Drosophila melanogaster males

Author:
Woodruff, RonnyC.; Balinski, MichaelA.
Source:
Genetica 2018 v.146 no.3 pp. 323-328
ISSN:
0016-6707
Subject:
X chromosome,   etc   ; Drosophila melanogaster; evolutionary adaptation; females; males; mutation; viability;     Show all 7 Subjects
Abstract:
... To increase our understanding of the role of new X-chromosome mutations in adaptive evolution, single-X Drosophila melanogaster males were mated with attached-X chromosome females, allowing the male X chromosome to accumulate mutations over 28 generations. Contrary to our hypothesis that male viability would decrease over time, due to the accumulation and expression of X-linked recessive deleterio ...
DOI:
10.1007/s10709-018-0023-1

12. Genetic and morphological evidence for a new species of the Maculatus Group of Anopheles subgenus Cellia (Diptera: Culicidae) in Java, Indonesia

Author:
Ali, Rusdiyah Sudirman Made; Wahid, Isra; Saeung, Atiporn; Wannasan, Anchalee; Harbach, Ralph E.; Somboon, Pradya
Source:
Parasites & vectors 2019 v.12 no.1 pp. 107
ISSN:
1756-3305
Subject:
X chromosome,   etc   ; Anopheles maculatus; Protozoa; Y chromosome; adults; genetic distance; humans; internal transcribed spacers; karyotyping; larvae; metaphase; new species; phylogeny; pupae; Indonesia; Thailand;     Show all 16 Subjects
Abstract:
... BACKGROUND: Anopheles maculatus, a species of the Maculatus Group of subgenus Cellia (Diptera: Culicidae), is an important vector of human malarial protozoa in Java, Indonesia. However, the identity of this species in Indonesia has been questionable because published reports and records are based mainly on morphological identification, which is unreliable for distinguishing members of the Maculatu ...
DOI:
10.1186/s13071-019-3358-2

13. Malnutrition with hypoaminoacidemia in a 22-year-old pregnant patient masking a likely ornithine transcarbamylase deficiency

Author:
Lefrère, B.; Ulmann, G.; Chartier, M.; Patkaï, J.; Cynober, L.; Neveux, N.
Source:
Clinical nutrition ESPEN 2019 v.30 pp. 89-93
ISSN:
2405-4577
Subject:
X chromosome,   etc   ; ammonia; boys; enzyme activity; females; genes; hepatocytes; malnutrition; metabolic diseases; mutation; neonates; ornithine carbamoyltransferase; orotic acid; patients; poisoning; pregnancy; urine; vomiting; women;     Show all 19 Subjects
Abstract:
... Symptoms and clinical presentations of OTC deficiency vary widely according to the remaining activity of the enzyme. Three factors determine the residual enzyme activity. First, as the OTC gene is carried on the X chromosome, a complete inactivation of this enzyme in a newborn boy results an acute ammonia intoxication. Second, the female mosaicism due to lyonization (differential randomized X-inac ...
DOI:
10.1016/j.clnesp.2019.02.001

14. Short communication: Identification of the pseudoautosomal region in the Hereford bovine reference genome assembly ARS-UCD1.2

Author:
Johnson, T.; Keehan, M.; Harland, C.; Lopdell, T.; Spelman, R.J.; Davis, S.R.; Rosen, B.D.; Smith, T.P.L.; Couldrey, C.
Source:
Journal of dairy science 2019 v.102 no.4 pp. 3254-3258
ISSN:
0022-0302
Subject:
X chromosome,   etc   ; Hereford; bulls; cows; genetic analysis; genome; genome assembly; genome-wide association study; genotype; marker-assisted selection; single nucleotide polymorphism; statistical models;     Show all 12 Subjects
Abstract:
... In cattle, the X chromosome accounts for approximately 3 and 6% of the genome in bulls and cows, respectively. In spite of the large size of this chromosome, very few studies report analysis of the X chromosome in genome-wide association studies and genomic selection. This lack of genetic interrogation is likely due to the complexities of undertaking these studies given the hemizygous state of som ...
DOI:
10.3168/jds.2018-15638

15. Functional divergence of a heterochromatin‐binding protein during stickleback speciation

Author:
Yoshida, Kohta; Ishikawa, Asano; Toyoda, Atsushi; Shigenobu, Shuji; Fujiyama, Asao; Kitano, Jun
Source:
Molecular ecology 2019 v.28 no.6 pp. 1563-1578
ISSN:
0962-1083
Subject:
X chromosome,   etc   ; Gasterosteidae; binding capacity; biological speciation; centromeres; gene overexpression; genes; genomics; heterochromatin; histones; hybrids; lysine; male sterility; messenger RNA; models; retrotransposons; testes; transposons; Japan; Pacific Ocean;     Show all 20 Subjects
Abstract:
... Intragenomic conflict, the conflict of interest between different genomic regions within an individual, is proposed as a mechanism driving both the rapid evolution of heterochromatin‐related proteins and the establishment of intrinsic genomic incompatibility between species. Although molecular studies of laboratory model organisms have demonstrated the link between heterochromatin evolution and hy ...
DOI:
10.1111/mec.14841

16. Both male and female gamete generating cells produce processed pseudogenes in the human genome

Author:
Maranda, Vincent; Sunstrum, Frédérick G.; Drouin, Guy
Source:
Gene 2019 v.684 pp. 70-75
ISSN:
0378-1119
Subject:
X chromosome,   etc   ; RNA-directed DNA polymerase; Y chromosome; autosomes; females; germ cells; humans; males; messenger RNA; oogenesis; pseudogenes; reverse transcription; spermatogenesis; substrate specificity;     Show all 14 Subjects
Abstract:
... The human genome contains an unusually large number of processed pseudogenes. The fact that processed pseudogenes are roughly 33% more abundant in our X chromosome than in our autosomes suggests that this overabundance is the result of the fact that human oogenesis is much longer than that of non-mammalian species. Here, we analyze the origins of the processed pseudogenes found on the human Y chro ...
DOI:
10.1016/j.gene.2018.10.061

17. Dissecting the all-hermaphrodite phenomenon of a rare X chromosome mutant in papaya (Carica papaya L.)

Author:
Chen, Jen-Ren; Urasaki, Naoya; Matsumura, Hideo; Chen, I-Cheng; Lee, Mei-Jiuan; Chang, Hui-Ju; Chung, Wen-Chuan; Ku, Hsin-Mei
Source:
Molecular breeding 2019 v.39 no.1 pp. 14
ISSN:
1380-3743
Subject:
X chromosome,   etc   ; Carica papaya; alleles; females; flowering; genetic markers; germination; hermaphroditism; homozygosity; inbred lines; males; mutants; progeny; seed abortion; seed development; seedlings; seeds; self-pollination; sex determination;     Show all 19 Subjects
Abstract:
... Sex form is one of the most important characters in papaya cultivation in which hermaphrodite is preferable sex form. However, sex determination is impossible until flowering. This study has developed SCAR markers derived from the SVP-like gene and can truly discriminate the three sex forms: female, male, and hermaphrodite papaya. Molecular markers were applied to study the mechanisms responsible ...
DOI:
10.1007/s11032-018-0918-7

18. Sex estimation using sexually dimorphic amelogenin protein fragments in human enamel

Author:
Parker, Glendon J.; Yip, Julia M.; Eerkens, Jelmer W.; Salemi, Michelle; Durbin-Johnson, Blythe; Kiesow, Caleb; Haas, Randall; Buikstra, Jane E.; Klaus, Haagen; Regan, Laura A.; Rocke, David M.; Phinney, Brett S.
Source:
Journal of archaeological science 2019 v.101 pp. 169-180
ISSN:
0305-4403
Subject:
X chromosome,   etc   ; Y chromosome; adults; archaeology; enamel; females; genes; humans; liquid chromatography; males; mass spectrometry; mineralization; peptides; probability; proteins; proteomics; regression analysis; sexual dimorphism; teeth;     Show all 19 Subjects
Abstract:
... Amelogenin genes are located on both X and Y sex chromosomes in humans and are a major focus of DNA-based sex estimation methods. Amelogenin proteins, AMELX_HUMAN and AMELY_HUMAN, are expressed in the tooth organ and play a major role in mineralization of enamel, the most taphonomically resistant, archaeologically persistent human tissue. We describe shotgun liquid chromatography mass spectrometry ...
DOI:
10.1016/j.jas.2018.08.011

19. Fitting the Puzzle Pieces: the Bigger Picture of XCI

Author:
Maduro, Cheryl; de Hoon, Bas; Gribnau, Joost
Source:
Trends in biochemical sciences 2016 v.41 no.2 pp. 138-147
ISSN:
0968-0004
Subject:
X chromosome,   etc   ; females; genes;     Show all 3 Subjects
Abstract:
... X chromosome inactivation (XCI) is a mammalian-specific process initiated in all female cells, leading to one inactivated X chromosome. The robust nature of XCI, and the complex mechanisms involved in directing this process, makes XCI an important model system to study all aspects of gene regulation. XCI is divided into distinct phases: initiation, establishment, and maintenance of the inactive X ...
DOI:
10.1016/j.tibs.2015.12.003

20. X-inactive-specific transcript: A long noncoding RNA with complex roles in human cancers

Author:
Yang, Zhi; Jiang, Xiaodi; Jiang, Xiaofeng; Zhao, Haiying
Source:
Gene 2018 v.679 pp. 28-35
ISSN:
0378-1119
Subject:
X chromosome,   etc   ; apoptosis; autophagy; carcinogenesis; cell cycle; drug resistance; humans; metastasis; neoplasms; non-coding RNA; oncogenes;     Show all 11 Subjects
Abstract:
... The X-inactive-specific transcript (XIST/Xist) is one of the first long non-coding RNAs discovered in mammals and plays an essential role in X chromosome inactivation. XIST is dysregulated and acts as an oncogene or a tumor suppressor in different human malignancies. XIST is implicated in many aspects of carcinogenesis including tumor initiation, invasion, metastasis, apoptosis, cell cycle, stemne ...
DOI:
10.1016/j.gene.2018.08.071