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2022 William Allan Award introduction: Peter Donnelly
This article is based on the address given by the author at the 2022 meeting of The American Society of Human Genetics (ASHG) in Los Angeles, California. The video of the original address can be found at the ASHG website. (Source: The American Journal of Human Genetics)
Source: The American Journal of Human Genetics - March 2, 2023 Category: Genetics & Stem Cells Authors: Stephen Leslie Tags: ASHG Awards and Addresses Source Type: research

2022 ASHG presidential address —One human race: Billions of genomes
This article is based on the address given by the author at the 2022 meeting of The American Society of Human Genetics (ASHG) in Los Angeles, California. The video of the original address can be found at the ASHG website. (Source: The American Journal of Human Genetics)
Source: The American Journal of Human Genetics - March 2, 2023 Category: Genetics & Stem Cells Authors: Charles N. Rotimi Tags: ASHG Awards and Addresses Source Type: research

2022 ASHG awards and addresses
Each year at the annual meeting of The American Society of Human Genetics (ASHG), addresses are given in honor  of The Society and a number of award winners. A summary of each of these is provided below. On the following pages, we have printed the Presidential Address as well as the addresses for the William Allan Award, the Curt Stern Award, and the McKusick Leadership Award. Recordings of these addresse s, as well as those of many other presentations, can be found at https://www.ashg.org. (Source: The American Journal of Human Genetics)
Source: The American Journal of Human Genetics - March 2, 2023 Category: Genetics & Stem Cells Tags: ASHG Awards and Addresses Source Type: research

Facing Our History —Building an Equitable Future
This report is the product of a major year-long initiative to acknowledge and reckon with past injustice, as well as progress toward justice, within the American Society of Human Genetics (ASHG) and the broader field of human genetics. Approved by the ASHG Board of Directors and launched in 2021, the initiative was sparked by the social and racial reckonings in 2020. The ASHG Bboard of Directors asked ASHG to acknowledge and provide examples of how human genetics theories and knowledge “have been used to feed and justify racism, eugenics, and other systemic forms of injustice, and to focus specifically on examples of ASH...
Source: The American Journal of Human Genetics - March 2, 2023 Category: Genetics & Stem Cells Authors: Chazeman S. Jackson, Daria Turner, Maya June, Mona V. Miller Tags: ASHG Report Source Type: research

On the report of the ASHG “Facing Our History—Building an Equitable Future” initiative
The American Society of Human Genetics (ASHG) —and the research community it supports—believes in the power of human genetics to advance science, health, and society. However, ASHG and the field have failed to acknowledge, fully and consistently, the misuse of human genetics to serve unjust ends or take action to denounce such use. As the c ommunity’s oldest and largest professional society, ASHG also has been late in making explicit efforts to integrate equity, diversity, and inclusion into its values, programs, and voice. (Source: The American Journal of Human Genetics)
Source: The American Journal of Human Genetics - March 2, 2023 Category: Genetics & Stem Cells Authors: American Society of Human Genetics Board of Directors Tags: ASHG Statement Source Type: research

This month in The Journal
Inspired by rapid advances in the technology and utility of genetic testing, multiple countries have launched genomic medicine initiatives in recent years. While the approaches have varied, the underlying goal has been the same: to improve the health and well-being of citizens. As with any new initiative, much of a project ’s early foundational work is aimed at building infrastructure and capacity, as well as developing best practices. In this issue, Stark et al. provide an overview of the first 5 years of Australian Genomics, a program tasked with providing genetic testing for a wide range of diseases and developi ng t...
Source: The American Journal of Human Genetics - March 2, 2023 Category: Genetics & Stem Cells Authors: Kylee L. Spencer, Sara B. Cullinan Tags: Editors' Corner Source Type: research

Celebrating excellence, acknowledging past harms: Both are vital parts of ASHG ’s continuing journey to advance human genetics
The March issue of The American Journal of Human Genetics is the traditional forum to share the remarks of the winners for several American Society of Human Genetics (ASHG) annual professional awards, as well as respective introductory remarks provided by a colleague. This year, it is a great honor to recognize exceptional scientific leadership of three 2022 ASHG award winners: Peter Donnelly, David Nelson, and Heidi Rehm. As their introducers ably relay, each awardee has made profound contributions to human genetics and genomics research and the ASHG community, and we celebrate their achievements. (Source: The American Jo...
Source: The American Journal of Human Genetics - March 2, 2023 Category: Genetics & Stem Cells Authors: Bruce R. Korf, Brendan Lee, Mona V. Miller Tags: Editorial Source Type: research

The impact of coding germline variants on contralateral breast cancer risk and survival
Protein-truncating and/or (likely) pathogenic missense variants in BRCA1, BRCA2, CHEK2, PALB2, and TP53 were associated with 2- to 8-fold higher risk of contralateral breast cancer. Associations with breast cancer-specific survival were generally weaker. These findings are relevant to treatment decisions, follow-up, and screening after breast cancer diagnosis. (Source: The American Journal of Human Genetics)
Source: The American Journal of Human Genetics - February 23, 2023 Category: Genetics & Stem Cells Authors: Anna Morra, Nasim Mavaddat, Taru A. Muranen, Thomas U. Ahearn, Jamie Allen, Irene L. Andrulis, P äivi Auvinen, Heiko Becher, Sabine Behrens, Carl Blomqvist, Stig E. Bojesen, Manjeet K. Bolla, Hiltrud Brauch, Nicola J. Camp, Sara Carvalho, Jose E. Castela Tags: Article Source Type: research

Epigenetic regulation of plastin 3 expression by the macrosatellite DXZ4 and the transcriptional regulator CHD4
Dysregulated PLS3 levels associate with various genetic diseases, PLS3 upregulation protects against spinal muscular atrophy and is a biomarker of cancer. A high copy number of DXZ4 macrosatellite facilitates the escape of PLS3 from X-inactivation in women. Moreover, independent of sex, PLS3 expression is epigenetically regulated by the CHD4/NuRD complex. (Source: The American Journal of Human Genetics)
Source: The American Journal of Human Genetics - February 21, 2023 Category: Genetics & Stem Cells Authors: Eike A. Strathmann, Irmgard H ölker, Nikolai Tschernoster, Seyyedmohsen Hosseinibarkooie, Julien Come, Cecile Martinat, Janine Altmüller, Brunhilde Wirth Tags: Article Source Type: research

Development of an oral treatment that rescues gait ataxia and retinal degeneration in a phenotypic mouse model of familial dysautonomia
Morini et  al. describe the optimization of an oral treatment for familial dysautonomia (FD), a rare neurodegenerative disease caused by a splicing mutation in ELP1. Their compound restores correct ELP1 splicing in every tissue, including brain, and prevents gait ataxia and retinal degeneration in a mouse mo del of FD. (Source: The American Journal of Human Genetics)
Source: The American Journal of Human Genetics - February 20, 2023 Category: Genetics & Stem Cells Authors: Elisabetta Morini, Anil Chekuri, Emily M. Logan, Jessica M. Bolduc, Emily G. Kirchner, Monica Salani, Aram J. Krauson, Jana Narasimhan, Vijayalakshmi Gabbeta, Shivani Grover, Amal Dakka, Anna Mollin, Stephen P. Jung, Xin Zhao, Nanjing Zhang, Sophie Zhang, Tags: Article Source Type: research

Effects of protein-coding variants on blood metabolite measurements and clinical biomarkers in the UK Biobank
Blood metabolite measurements can help diagnose and monitor human disease. We analyzed 412,393  UK Biobank exomes to assess rare variant contribution to 355 metabolic blood measurements, revealing significant associations for 205 genes. We provide several examples of how this resource can help elucidate disease mechanisms. (Source: The American Journal of Human Genetics)
Source: The American Journal of Human Genetics - February 20, 2023 Category: Genetics & Stem Cells Authors: Abhishek Nag, Ryan S. Dhindsa, Lawrence Middleton, Xiao Jiang, Dimitrios Vitsios, Eleanor Wigmore, Erik L. Allman, Anna Reznichenko, Keren Carss, Katherine R. Smith, Quanli Wang, Benjamin Challis, Dirk S. Paul, Andrew R. Harper, Slav é Petrovski Tags: Article Source Type: research

Deficiency of primate-specific SSX1 induced asthenoteratozoospermia in infertile men and cynomolgus monkey and tree shrew models
This study identified variants in an X-linked PSG, SSX1, associated with male infertility. By using cynomolgus monkey and tree shrew models, this study provides a powerful experimental system for elucidating the functions of testis-enriched PSGs in spermatogenesis. (Source: The American Journal of Human Genetics)
Source: The American Journal of Human Genetics - February 15, 2023 Category: Genetics & Stem Cells Authors: Chunyu Liu, Wei Si, Chaofeng Tu, Shixiong Tian, Xiaojin He, Shengnan Wang, Xiaoyu Yang, Chencheng Yao, Cong Li, Zine-Eddine Kherraf, Maosen Ye, Zixue Zhou, Yuhua Ma, Yang Gao, Yu Li, Qiwei Liu, Shuyan Tang, Jiaxiong Wang, Hexige Saiyin, Liangyu Zhao, Liqu Tags: Article Source Type: research

Targeted long-read sequencing of the Ewing sarcoma 6p25.1 susceptibility locus identifies germline-somatic interactions with EWSR1-FLI1 binding
Lee et  al. characterized germline variation in the 6p25.1 EwS susceptibility region. Longer GGAA microsatellite alleles at 6p25.1 were associated with EwS risk and the microsatellite showed chromatin features of an EWSR1-FLI1 enhancer. EWSR1-FLI1 binding altered expression of RREB1, promoting proliferati on. (Source: The American Journal of Human Genetics)
Source: The American Journal of Human Genetics - February 13, 2023 Category: Genetics & Stem Cells Authors: Olivia W. Lee, Calvin Rodrigues, Shu-Hong Lin, Wen Luo, Kristine Jones, Derek W. Brown, Weiyin Zhou, Eric Karlins, Sairah M. Khan, Sylvain Baulande, Virginie Raynal, Didier Surdez, Stephanie Reynaud, Rebeca Alba Rubio, Sakina Zaidi, Sandrine Grosset ête, Tags: Article Source Type: research

Inherited mutations affecting the SRCAP complex are central in moderate-penetrance predisposition to uterine leiomyomas
UK Biobank whole-exome data revealed an association between mutations in genes encoding the SRCAP complex and uterine leiomyomas (ULs). In our collection of 860 individuals, we identified seven women with inherited mutations in ACTL6A, YEATS4, and DMAP1. Our results establish these genes as central contributors to moderate-penetrance UL predisposition. (Source: The American Journal of Human Genetics)
Source: The American Journal of Human Genetics - February 10, 2023 Category: Genetics & Stem Cells Authors: Niko V älimäki, Vilja Jokinen, Tatiana Cajuso, Heli Kuisma, Aurora Taira, Olivia Dagnaud, Sini Ilves, Jaana Kaukomaa, Annukka Pasanen, Kimmo Palin, Oskari Heikinheimo, Ralf Bützow, Lauri A. Aaltonen, Auli Karhu Tags: Article Source Type: research

Response to Pfenning and Lachance
To the Editor: Of the many goals of our study of the transatlantic slave trade, one was to identify unequal sex contributions to the gene pool in admixed populations in the Americas.1 Our expectation was that, given historical knowledge of the slave trade, there would be evidence of African women contributing to the gene pool at a higher rate than African men and this rate would vary by geographic region.2 We indeed found evidence supporting this hypothesis using three methods: investigating differences in African ancestry estimates between all autosomes and the X chromosome,3 comparing Y and mitochondrial haplogroups in g...
Source: The American Journal of Human Genetics - February 2, 2023 Category: Genetics & Stem Cells Authors: Steven J. Micheletti, Samantha G. Ancona Esselmann, Kasia Bryc, Joanna L. Mountain Tags: Letter to the Editor Source Type: research