Article
Ecology
Dmitry A. Filatov
Summary: The shift of the pseudoautosomal boundary on the sex chromosomes of Silene latifolia has led to an expansion of the non-recombining sex-specific region (NRY), including at least 16 pseudoautosomal genes. The pseudoautosomal genes in this region have elevated genetic diversity, likely due to balancing selection. Interspecific gene flow between S. latifolia and S. dioica may contribute to the recent shift of the pseudoautosomal boundary.
JOURNAL OF EVOLUTIONARY BIOLOGY
(2022)
Article
Biotechnology & Applied Microbiology
Juraj Bergman, Mikkel Heide Schierup
Summary: This study provides a comprehensive analysis of the evolutionary dynamics of the pseudoautosomal region 1 (PAR1) in both extant and extinct hominids. PAR1 is found to evolve rapidly and is primarily influenced by recombination processes. The mutation patterns in PAR1 also differ among species, with an excess of C-to-G mutations associated with male recombination. Despite evidence of Y chromosome introgression from humans to Neanderthals, the PAR1 region in Neanderthals remains similar to the Denisovan sequence. Repeat content and double-strand break hotspot regions in PAR1 may play crucial roles in ensuring proper recombination between the X and Y chromosomes during male meiosis.
Article
Biochemistry & Molecular Biology
Hanna Sigeman, Maria Strandh, Estelle Proux-Wera, Verena E. Kutschera, Suvi Ponnikas, Hongkai Zhang, Max Lundberg, Lucile Soler, Ignas Bunikis, Maja Tarka, Dennis Hasselquist, Bjorn Nystedt, Helena Westerdahl, Bengt Hansson
Summary: The study reveals the evolutionary history of avian sex chromosomes, including translocation of an added region to Z and W, long-term recombination suppression, and degeneration of the added-W, indicating the complexity and diversity of avian sex chromosome evolution.
MOLECULAR BIOLOGY AND EVOLUTION
(2021)
Article
Biochemistry & Molecular Biology
Aina Garcia-Raventos, Antonio Munoz-Merida, Oriol Lapiedra, Mar Unzeta, Mariona Ferrandiz-Rovira, Daniel Sol
Summary: This study developed a novel method for molecular sexing of birds based on the detection of unique Z- and W-linked SNP markers. The method accurately assigned the sex of individuals in a species with reduced sexual dimorphism and different maturity stages, with high reliability and accuracy.
MOLECULAR ECOLOGY RESOURCES
(2023)
Article
Biochemistry & Molecular Biology
Joanna L. Rifkin, Felix E. G. Beaudry, Zoe Humphries, Baharul Choudhury, Spencer C. H. Barrett, Stephen Wright
Summary: The study suggests that low recombination rates may precede the formation of sex-linked regions, with large regions of recombination suppression found across all chromosomes. Additionally, gene and repetitive sequence density are correlated with recombination rates, with the variation patterns differing by repetitive element type.
MOLECULAR BIOLOGY AND EVOLUTION
(2021)
Article
Biochemistry & Molecular Biology
Christophe Dufresnes, Alan Brelsford, Felix Baier, Nicolas Perrin
Summary: Sex chromosomes do not necessarily stop recombining, heterochiasmy does not necessarily constrain heterogamety, and the role of sex-antagonistic genes in the evolution of sex chromosomes may have been overemphasized.
MOLECULAR BIOLOGY AND EVOLUTION
(2021)
Article
Evolutionary Biology
Miki Okuno, Shusei Mizushima, Asato Kuroiwa, Takehiko Itoh
Summary: Birds in the clade Palaeognathae, such as ostriches and emus, exhibit morphologically conserved karyotypes with less differentiated ZW sex chromosomes and exceptionally large recombining pseudoautosomal regions. By utilizing a novel assembly method, researchers successfully constructed phased assemblies for female emus, cassowaries, and ostriches, providing insights into the evolutionary process of sex chromosome transition in these birds. The study demonstrates that the Illumina-based phased assembly approach is effective for investigating the evolutionary trajectory of sex chromosome evolution in the clade Palaeognathae.
GENOME BIOLOGY AND EVOLUTION
(2021)
Article
Evolutionary Biology
Miki Okuno, Shusei Mizushima, Asato Kuroiwa, Takehiko Itoh
Summary: Birds in the clade Palaeognathae exhibit conserved karyotypes and less differentiated ZW sex chromosomes, with challenging construction and analysis of genome sequences due to low diversity between Z-linked and W-linked sequences. The Platanus-allee assembler was used to successfully construct haplotype-resolved assemblies for female emu, cassowary, and ostrich. Comparative genomic and phylogenetic analyses revealed insights into the evolution of sex chromosomes in Palaeognathae and highlighted the effectiveness of Illumina-based phased assembly for studying sex chromosome evolution.
GENOME BIOLOGY AND EVOLUTION
(2021)
Article
Biochemistry & Molecular Biology
Jun Ping, Yun Xia, Jianghong Ran, Xiaomao Zeng
Summary: In contrast to birds and mammals, cold-blooded vertebrates often have homomorphic sex chromosomes. This study on the torrent frog genus Amolops revealed that the homomorphy of sex chromosomes in these frogs is a result of turnover and X-Y recombination. Furthermore, the sex chromosomes in Amolops show heterogeneous evolution, with both homologous and non-homologous chromosomes involved. The turnover rate of non-homologous sex chromosomes is low in these torrent frogs.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Jason M. Sardell, Matthew P. Josephson, Anne C. Dalziel, Catherine L. Peichel, Mark Kirkpatrick
Summary: By comparing closely related species with homologous sex chromosomes, researchers have found that the sex chromosomes of the blackspotted stickleback experienced independent and more extensive recombination suppression, greater X-Y differentiation, and a much higher rate of Y degeneration than the other two species. This could be due to the smaller effective population size in the blackspotted stickleback. Additionally, a recent fusion between the ancestral blackspotted stickleback Y chromosome and Chromosome 12 may have been favored by the very small size of the recombining region on the ancestral sex chromosome.
MOLECULAR BIOLOGY AND EVOLUTION
(2021)
Review
Genetics & Heredity
Lei Sun, Zhong Wang, Tianyuan Lu, Teri A. Manolio, Andrew D. Paterson
Summary: A study conducted 10 years ago found that only 33% of GWAS results included the X chromosome, leading to recommendations to address this exclusion. However, a recent survey showed that in the NHGRI-EBI GWAS Catalog of 2021, only 25% of the reported results included the X chromosome and 3% included the Y chromosome, indicating that the exclusion persists and has become a more significant problem.
AMERICAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Biology
Qiang Huang, Sheina B. Sim, Scott M. Geib, Anna Childers, Junfeng Liu, Xiuxiu Wei, Wensu Han, Francisco Posada-Florez, Allen Z. Xue, Zheng Li, Jay D. Evans
Summary: In this study, the chromosome-level genome assembly of the small hive beetle (SHB) was completed for the first time. The features of SHB sex chromosomes and the asymmetry of the primary sex ratio were analyzed using this annotated assembly. The genome-enabled insights are critical for understanding the successful traits of SHB and determining the causes of observed sex ratio asymmetries.
Article
Plant Sciences
Hongbing She, Zhiyuan Liu, Shufen Li, Zhaosheng Xu, Helong Zhang, Feng Cheng, Jian Wu, Xiaowu Wang, Chuanliang Deng, Deborah Charlesworth, Wujun Gao, Wei Qian
Summary: Reference genomes for the X and Y haplotypes of spinach (Spinacia oleracea) were described by sequencing homozygous XX females and YY males. The presence of a Y duplication region and differences in repetitive sequences and pseudogenes suggest degeneration and reduced recombination in the Y-linked region. These findings contribute to a broader understanding of the origin of sex chromosomes in spinach.
Article
Fisheries
Thitipong Panthum, Nararat Laopichienpong, Ekaphan Kraichak, Worapong Singchat, Dung Ho My Nguyen, Nattakan Ariyaraphong, Syed Farhan Ahmad, Narongrit Muangmai, Prateep Duengkae, Surin Peyachoknagul, Tariq Ezaz, Kornsorn Srikulnath
Summary: The snakeskin gourami, a top freshwater aquaculture fish in Thailand, shows an XX/XY sex determination system with a young Y chromosome and a cryptic sex determination region. Genotyping-by-sequencing identified male-linked loci but did not find any male-specific loci, providing valuable information for further genetic improvement in this species.
Review
Biology
Kornsorn Srikulnath, Syed Farhan Ahmad, Worapong Singchat, Thitipong Panthum
Summary: Transposable elements (TEs) play critical roles in eukaryotic genomes, particularly in sex chromosomes, by mediating genomic novelties and contributing to sex chromosome differentiation. The abundance of TEs in sex-determining regions is linked to the emergence of these regions and is considered a hallmark of chromosome degeneration. Recent approaches have been developed to study the roles and effects of TEs in sex chromosome differentiation and evolution.
Article
Genetics & Heredity
Chelsea K. Raulerson, Arthur Ko, John C. Kidd, Kevin W. Currin, Sarah M. Brotman, Maren E. Cannon, Ying Wu, Cassandra N. Spracklen, Anne U. Jackson, Heather M. Stringham, Ryan P. Welch, Christian Fuchsberger, Adam E. Locke, Narisu Narisu, Aldons J. Lusis, Mete Civelek, Terrence S. Furey, Johanna Kuusisto, Francis S. Collins, Michael Boehnke, Laura J. Scott, Dan-Yu Lin, Michael I. Love, Markku Laakso, Paivi Pajukanta, Karen L. Mohlke
AMERICAN JOURNAL OF HUMAN GENETICS
(2019)
Article
Multidisciplinary Sciences
Margaret L. Antonio, Ziyue Gao, Hannah M. Moots, Michaela Lucci, Francesca Candilio, Susanna Sawyer, Victoria Oberreiter, Diego Calderon, Katharina Devitofranceschi, Rachael C. Aikens, Serena Aneli, Fulvio Bartoli, Alessandro Bedini, Olivia Cheronet, Daniel J. Cotter, Daniel M. Fernandes, Gabriella Gasperetti, Renata Grifoni, Alessandro Guidi, Francesco La Pastina, Ersilia Loreti, Daniele Manacorda, Giuseppe Matullo, Simona Morretta, Alessia Nava, Vincenzo Fiocchi Nicolai, Federico Nomi, Carlo Pavolini, Massimo Pentiricci, Philippe Pergola, Marina Piranomonte, Ryan Schmidt, Giandomenico Spinola, Alessandra Sperduti, Mauro Rubini, Luca Bondioli, Alfredo Coppa, Ron Pinhasi, Jonathan K. Pritchard
Article
Multidisciplinary Sciences
Cassandra N. Spracklen, Momoko Horikoshi, Young Jin Kim, Kuang Lin, Fiona Bragg, Sanghoon Moon, Ken Suzuki, Claudia H. T. Tam, Yasuharu Tabara, Soo-Heon Kwak, Fumihiko Takeuchi, Jirong Long, Victor J. Y. Lim, Jin-Fang Chai, Chien-Hsiun Chen, Masahiro Nakatochi, Jie Yao, Hyeok Sun Choi, Apoorva K. Iyengar, Hannah J. Perrin, Sarah M. Brotman, Martijn Van De Bunt, Anna L. Gloyn, Jennifer E. Below, Michael Boehnke, Donald W. Bowden, John C. Chambers, Anubha Mahajan, Mark I. McCarthy, Maggie C. Y. Ng, Lauren E. Petty, Weihua Zhang, Andrew P. Morris, Linda S. Adair, Masato Akiyama, Zheng Bian, Juliana C. N. Chan, Li-Ching Chang, Miao-Li Chee, Yii-Der Ida Chen, Yuan-Tsong Chen, Zhengming Chen, Lee-Ming Chuang, Shufa Du, Penny Gordon-Larsen, Myron Gross, Xiuqing Guo, Yu Guo, Sohee Han, Annie-Green Howard, Wei Huang, Yi-Jen Hung, Mi Yeong Hwang, Chii-Min Hwu, Sahoko Ichihara, Masato Isono, Hye-Mi Jang, Guozhi Jiang, Jost B. Jonas, Yoichiro Kamatani, Tomohiro Katsuya, Takahisa Kawaguchi, Chiea-Chuen Khor, Katsuhiko Kohara, Myung-Shik Lee, Nanette R. Lee, Liming Li, Jianjun Liu, Andrea O. Luk, Jun Lv, Yukinori Okada, Mark A. Pereira, Charumathi Sabanayagam, Jinxiu Shi, Dong Mun Shin, Wing Yee So, Atsushi Takahashi, Brian Tomlinson, Fuu-Jen Tsai, Rob M. van Dam, Yong-Bing Xiang, Ken Yamamoto, Toshimasa Yamauchi, Kyungheon Yoon, Canqing Yu, Jian-Min Yuan, Liang Zhang, Wei Zheng, Michiya Igase, Yoon Shin Cho, Jerome I. Rotter, Ya-Xing Wang, Wayne H. H. Sheu, Mitsuhiro Yokota, Jer-Yuarn Wu, Ching-Yu Cheng, Tien-Yin Wong, Xiao-Ou Shu, Norihiro Kato, Kyong-Soo Park, E-Shyong Tai, Fumihiko Matsuda, Woon-Puay Koh, Ronald C. W. Ma, Shiro Maeda, Iona Y. Millwood, Juyoung Lee, Takashi Kadowaki, Robin G. Walters, Bong-Jo Kim, Karen L. Mohlke, Xueling Sim
Article
Endocrinology & Metabolism
Kimberly C. Olney, Sarah M. Brotman, Jocelyn P. Andrews, Valeria A. Valverde-Vesling, Melissa A. Wilson
BIOLOGY OF SEX DIFFERENCES
(2020)
Article
Multidisciplinary Sciences
Meritxell Oliva, Manuel Munoz-Aguirre, Sarah Kim-Hellmuth, Valentin Wucher, Ariel D. H. Gewirtz, Daniel J. Cotter, Princy Parsana, Silva Kasela, Brunilda Balliu, Ana Vinuela, Stephane E. Castel, Pejman Mohammadi, Francois Aguet, Yuxin Zou, Ekaterina A. Khramtsova, Andrew D. Skol, Diego Garrido-Martin, Ferran Reverter, Andrew Brown, Patrick Evans, Eric R. Gamazon, Anthony Payne, Rodrigo Bonazzola, Alvaro N. Barbeira, Andrew R. Hamel, Angel Martinez-Perez, Jose Manuel Soria, Brandon L. Pierce, Matthew Stephens, Eleazar Eskin, Emmanouil T. Dermitzakis, Ayellet Segr, Hae Kyung Im, Barbara E. Engelhardt, Kristin G. Ardlie, Stephen B. Montgomery, Alexis J. Battle, Tuuli Lappalainen, Roderic Guigo, Barbara E. Stranger
Article
Multidisciplinary Sciences
Francois Aguet, Alvaro N. Barbeira, Rodrigo Bonazzola, Andrew Brown, Stephane E. Castel, Brian Jo, Silva Kasela, Sarah Kim-Hellmuth, Yanyu Liang, Princy Parsana, Elise Flynn, Laure Fresard, Eric R. Gamazon, Andrew R. Hamel, Yuan He, Farhad Hormozdiari, Pejman Mohammadi, Manuel Munoz-Aguirre, Kristin G. Ardlie, Alexis Battle, Rodrigo Bonazzola, Christopher D. Brown, Nancy Cox, Emmanouil T. Dermitzakis, Barbara E. Engelhardt, Diego Garrido-Martin, Nicole R. Gay, Gad Getz, Roderic Guigo, Andrew R. Hamel, Robert E. Handsaker, Yuan He, Paul J. Hoffman, Farhad Hormozdiari, Hae Kyung Im, Brian Jo, Silva Kasela, Seva Kashin, Sarah Kim-Hellmuth, Alan Kwong, Tuuli Lappalainen, Xiao Li, Yanyu Liang, Daniel G. MacArthur, Pejman Mohammadi, Stephen B. Montgomery, Manuel Munoz-Aguirre, John M. Rouhana, Farhad Hormozdiari, Hae Kyung Im, Sarah Kim-Hellmuth, Kristin G. Ardlie, Gad Getz, Roderic Guigo, Hae Kyung Im, Tuuli Lappalainen, Stephen B. Montgomery, Hae Kyung Im, Tuuli Lappalainen, Tuuli Lappalainen, Shankara Anand, Stacey Gabriel, Gad Getz, Aaron Graubert, Kane Hadley, Robert E. Handsaker, Katherine H. Huang, Seva Kashin, Xiao Li, Daniel G. MacArthur, Samuel R. Meier, Jared L. Nedzel, Brunilda Balliu, Don Conrad, Daniel J. Cotter, Sayantan Das, Olivia M. de Goede, Eleazar Eskin, Tiffany Y. Eulalio, Nicole M. Ferraro, Diego Garrido-Martin, Nicole R. Gay, Gad Getz, Aaron Graubert, Roderic Guigo, Kane Hadley, Andrew R. Hamel, Robert E. Handsaker, Yuan He, Paul J. Hoffman, Farhad Hormozdiari, Lei Hou, Katherine H. Huang, Hae Kyung Im, Brian Jo, Silva Kasela, Seva Kashin, Manolis Kellis, Sarah Kim-Hellmuth, Alan Kwong, Tuuli Lappalainen, Xiao Li, Xin Li, Yanyu Liang, Daniel G. MacArthur, Serghei Mangul, Samuel R. Meier, Pejman Mohammadi, Stephen B. Montgomery, Manuel Munoz-Aguirre, Daniel C. Nachun, Jared L. Nedzel, Duyen Y. Nguyen, Andrew B. Nobel, YoSon Park, Ferran Reverter, Chiara Sabatti, Ashis Saha, Ayellet Segre, Matthew Stephens, Benjamin J. Strober, Nicole A. Teran, Ellen Todres, Ana Vinuela, Gao Wang, Xiaoquan Wen, Fred Wright, Valentin Wucher, Yuxin Zou, Pedro G. Ferreira, Gen Li, Marta Mele, Esti Yeger-Lotem, Mary E. Barcus, Debra Bradbury, Tanya Krubit, Jeffrey A. McLean, Liqun Qi, Karna Robinson, Nancy Roche, Anna M. Smith, David E. Tabor, Anita Undale, Jason Bridge, Lori E. Brigham, Barbara A. Foster, Bryan M. Gillard, Richard Hasz, Marcus Hunter, Christopher Johns, Mark Johnson, Ellen Karasik, Gene Kopen, William F. Leinweber, Alisa McDonald, Michael T. Moser, Kevin Myer, Kimberley D. Ramsey, Brian Roe, Saboor Shad, Jeffrey A. Thomas, Gary Walters, Michael Washington, Joseph Wheeler, Scott D. Jewell, Daniel C. Rohrer, Dana R. Valley, David A. Davis, Deborah C. Mash, Philip A. Branton, Leslie Sobin, Laura K. Barker, Heather M. Gardiner, Maghboeba Mosavel, Laura A. Siminoff, Paul Flicek, Maximilian Haeussler, Thomas Juettemann, W. James Kent, Christopher M. Lee, Conner C. Powell, Kate R. Rosenbloom, Magali Ruffier, Dan Sheppard, Kieron Taylor, Stephen J. Trevanion, Daniel R. Zerbino, Nathan S. Abell, Joshua Akey, Lin Chen, Kathryn Demanelis, Jennifer A. Doherty, Andrew P. Feinberg, Kasper D. Hansen, Peter F. Hickey, Lei Hou, Farzana Jasmine, Lihua Jiang, Rajinder Kaul, Manolis Kellis, Muhammad G. Kibriya, Jin Billy Li, Qin Li, Shin Lin, Sandra E. Linder, Stephen B. Montgomery, Meritxell Oliva, Yongjin Park, Brandon L. Pierce, Lindsay F. Rizzardi, Andrew D. Skol, Kevin S. Smith, Michael Snyder, John Stamatoyannopoulos, Hua Tang, Meng Wang, Latarsha J. Carithers, Ping Guan, Susan E. Koester, A. Roger Little, Helen M. Moore, Concepcion R. Nierras, Abhi K. Rao, Jimmie B. Vaught, Simona Volpi
Article
Genetics & Heredity
Cassandra N. Spracklen, Apoorva K. Iyengar, Swarooparani Vadlamudi, Chelsea K. Raulerson, Anne U. Jackson, Sarah M. Brotman, Ying Wu, Maren E. Cannon, James P. Davis, Aaron T. Crain, Kevin W. Currin, Hannah J. Perrin, Narisu Narisu, Heather M. Stringham, Christian Fuchsberger, Adam E. Locke, Ryan P. Welch, Johanna K. Kuusisto, Paivi Pajukanta, Laura J. Scott, Yun Li, Francis S. Collins, Michael Boehnke, Markku Laakso, Karen L. Mohlke
Article
Neurosciences
Amanda K. Tilot, Ekaterina A. Khramtsova, Dan Liang, Katrina L. Grasby, Neda Jahanshad, Jodie Painter, Lucia Colodro-Conde, Janita Bralten, Derrek P. Hibar, Penelope A. Lind, Siyao Liu, Sarah M. Brotman, Paul M. Thompson, Sarah E. Medland, Fabio Macciardi, Barbara E. Stranger, Lea K. Davis, Simon E. Fisher, Jason L. Stein
Summary: Research indicates that recent positive polygenic selection over the past 2000-3000 years is associated with increased surface area of the entire cortex and specific regions involved in language and visual processing. Non-coding genomic regions active during prenatal cortical development play a role in the evolution of human brain structure, identifying novel regulatory elements and genes impacting modern human brain structure.
Article
Ecology
Daniel J. Cotter, Alissa L. Severson, Noah A. Rosenberg
Summary: Consanguineous unions decrease the time to the most recent common ancestor for X-chromosomal alleles, with different effects observed depending on the type of cousin mating. Matrilateral first-cousin mating has a stronger effect in reducing X-chromosomal TMRCA compared to autosomes, especially with parallel-cousin mating. The model provides insights into genomic sharing patterns on the X chromosome.
THEORETICAL POPULATION BIOLOGY
(2021)
Article
Genetics & Heredity
Sarah M. Brotman, Chelsea K. Raulerson, Swarooparani Vadlamudi, Kevin W. Currin, Qiujin Shen, Victoria A. Parsons, Apoorva K. Iyengar, Tamara S. Roman, Terrence S. Furey, Johanna Kuusisto, Francis S. Collins, Michael Boehnke, Markku Laakso, Paivi Pajukanta, Karen L. Mohlke
Summary: This study used subcutaneous adipose tissue from 426 Finnish men to identify splice junction quantitative trait loci (sQTLs) and expression quantitative trait loci (eQTLs). They found that these genetic variants may reveal molecular mechanisms of disease, and detected splicing events that could potentially contribute to gene function at GWAS loci.
AMERICAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Endocrinology & Metabolism
Julia S. El-Sayed Moustafa, Anne U. Jackson, Sarah M. Brotman, Li Guan, Sergio Villicana, Amy L. Roberts, Antonino Zito, Lori Bonnycastle, Michael R. Erdos, Narisu Narisu, Heather M. Stringham, Ryan Welch, Tingfen Yan, Timo Lakka, Stephen Parker, Jaakko Tuomilehto, Jeffrey Seow, Carl Graham, Isabella Huettner, Sam Acors, Neophytos Kouphou, Samuel Wadge, Emma L. Duncan, Claire J. Steves, Katie J. Doores, Michael H. Malim, Francis S. Collins, Paivi Pajukanta, Michael Boehnke, Heikki A. Koistinen, Markku Laakso, Mario Falchi, Jordana T. Bell, Laura J. Scott, Karen L. Mohlke, Kerrin S. Small
Summary: This study investigates the underlying mechanisms of COVID-19 severity in relation to obesity and other cardio-metabolic factors. The results show that individuals with lower background ACE2 levels, which is associated with adverse cardio-metabolic health indices, are at increased risk of severe COVID-19.
INTERNATIONAL JOURNAL OF OBESITY
(2022)
Article
Ecology
Daniel J. Cotter, Alissa L. Severson, Shai Carmi, Noah A. Rosenberg
Summary: The presence of consanguineous unions reduces coalescence times in a population, and different types of first-cousin consanguinity have varying effects on the coalescence time distribution.
THEORETICAL POPULATION BIOLOGY
(2022)
Article
Genetics & Heredity
Daniel J. Cotter, Elyssa F. Hofgard, John Novembre, Zachary A. Szpiech, Noah A. Rosenberg
Summary: When studying allele-frequency variation across populations, it is important to account for discreteness effects due to differences in sample sizes. This study introduces a rarefaction-based sample-size correction that compares rare and common variation across multiple populations with potentially different sample sizes. The results highlight subtle differences in allele-frequency patterns across populations and provide insights into allele classifications and their dependencies on subsample sizes.
Article
Multidisciplinary Sciences
Daniel J. Cotter, Timothy H. Webster, Melissa A. Wilson
Summary: This article investigates the various factors influencing genetic variation and focuses on the genetic diversity, divergence, and linkage disequilibrium in different regions of the X chromosome. The study finds that different regions of the X chromosome exhibit unique patterns in terms of genetic diversity and linkage disequilibrium, which are also related to the evolutionary history of specific human populations.
Article
Genetics & Heredity
Daniel J. Cotter, Alissa L. Severson, Jonathan T. L. Kang, Hormazd N. Godrej, Shai Carmi, Noah A. Rosenberg, P. Ralph
Summary: Runs of homozygosity (ROH) and identity-by-descent (IBD) sharing can be studied in diploid coalescent models. This study compares ROH and IBD sharing between autosomes and the X chromosome under different levels of consanguinity. The results support the prediction that genomic sharing is greater on the X chromosome due to its smaller population size. Coalescent models are useful for understanding patterns of genomic sharing dependent on sex-biased processes.
G3-GENES GENOMES GENETICS
(2023)