Annual review of genomics and human genetics最新文献

Emerging Functions of the Repeat Genome in Nuclear Structure: A View from the Human Karyotype. 重复基因组在核结构中的新功能：从人类核型的观点。

IF 7.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2025-05-29 DOI: 10.1146/annurev-genom-111522-014017

Lisa L Hall, Kelly P Smith, Jeanne B Lawrence

{"title":"Emerging Functions of the Repeat Genome in Nuclear Structure: A View from the Human Karyotype.","authors":"Lisa L Hall, Kelly P Smith, Jeanne B Lawrence","doi":"10.1146/annurev-genom-111522-014017","DOIUrl":"https://doi.org/10.1146/annurev-genom-111522-014017","url":null,"abstract":"Collectively, various tandem and interspersed repetitive sequences make up approximately half the human genome, yet we have only begun to understand the potential functions of \"junk\" DNA. Here, we provide a brief overview of various types of repeats, but a full treatment of the repeat genome (repeatome) is beyond the scope of any review. Hence, we focus primarily on less established functions of a few major repeat classes, including pericentromeric satellites and abundant degenerate interspersed repeats, short interspersed nuclear elements (Alu), and long interspersed nuclear elements (L1). A theme developed throughout is how sequence organization in the human karyotype provides insights into potential functions within nuclear structure. For example, millions of small tandem major satellite repeats can form bodies that sequester nuclear factors, or the segmental organization of interspersed repeats may underpin the nuclear compartmentalization of heterochromatin and euchromatin. Decoding the vast repeatome is an exciting frontier being enabled by recent technological advancements. However, identifying the extent of meaningful information in repeats will likely require concepts that go well beyond impacts for individual genes, to new ways to identify and interpret broad patterns of genome-wide organization and nucleus-wide regulation.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":" ","pages":""},"PeriodicalIF":7.7,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144179672","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Pediatric Cancer Genetics and Genomics. 儿童癌症遗传学和基因组学。

IF 7.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2025-05-28 DOI: 10.1146/annurev-genom-120823-010156

Elaine R Mardis

引用次数: 0

From Tiny Exons to Big Insights: The Expanding Field of Microexons. 从微小外显子到大见解：微外显子的扩展领域。

IF 7.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2025-05-20 DOI: 10.1146/annurev-genom-121323-103648

Tahnee Mackensen, Manuel Irimia

{"title":"From Tiny Exons to Big Insights: The Expanding Field of Microexons.","authors":"Tahnee Mackensen, Manuel Irimia","doi":"10.1146/annurev-genom-121323-103648","DOIUrl":"https://doi.org/10.1146/annurev-genom-121323-103648","url":null,"abstract":"Over the last decade, a set of very short (3-51 nt) and highly conserved microexons have been found to crucially influence a set of diverse protein functions and interactions. Advancements in RNA sequencing and analysis pipelines have revealed an enrichment for the alternative splicing of microexons in a subset of tissues and cell types, especially across the central nervous system. Microexons are thought to fine-tune important developmental processes such as synaptogenesis by preserving the protein's reading frame upon inclusion. Dysregulation of microexon splicing has been linked to several neurological conditions, including autism spectrum disorder and schizophrenia, as well as metabolic disorders like diabetes and various cancer types. This review discusses the expanding body of literature on the molecular and organismal consequences of microexon inclusion, emphasizing their evolutionary conservation, tissue specificity, and functional diversity. It also explores the potential for therapeutic interventions, including pharmacological modulation, on microexon splicing and splicing regulators like SRRM3 and SRRM4, offering perspectives on targeting diseases related to microexon misregulation. More research is needed to better understand similarities and differences between microexon functions across tissues, pathologies, and species.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":" ","pages":""},"PeriodicalIF":7.7,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144109574","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The Hallmarks of Aneuploidy in Cancer and Congenital Syndromes. 癌症和先天性综合征的非整倍体特征。

IF 7.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2025-05-08 DOI: 10.1146/annurev-genom-111723-103557

Pan Cheng, Karan Singh, Roger H Reeves, Teresa Davoli

{"title":"The Hallmarks of Aneuploidy in Cancer and Congenital Syndromes.","authors":"Pan Cheng, Karan Singh, Roger H Reeves, Teresa Davoli","doi":"10.1146/annurev-genom-111723-103557","DOIUrl":"https://doi.org/10.1146/annurev-genom-111723-103557","url":null,"abstract":"Aneuploidy, characterized by the gain or loss of chromosomes, plays a critical role in both cancer and congenital aneuploidy syndromes. For any aneuploidy, we can distinguish between its general effects and its chromosome-specific effects. General effects refer to the common cellular stresses induced by aneuploidy, such as impaired proliferation, proteotoxic stress, and altered metabolism, which occur regardless of the specific chromosome involved and profoundly impact cellular and organismal functions. These generalized stresses often hinder cell fitness but can also, under certain conditions, contribute to cancer progression. In contrast, chromosome-specific effects arise from the altered dosage of particular genes on the gained or lost chromosome. These effects vary depending on the chromosome involved and can provide specific fitness effects in cancer cells or distinct developmental phenotypes in congenital aneuploidies like Down syndrome. Understanding the interplay between these two levels of effects is crucial for deciphering the outcomes of aneuploidy. This review synthesizes current knowledge and discusses future directions for unraveling the hallmarks of aneuploidy.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":" ","pages":""},"PeriodicalIF":7.7,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143954597","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Functional Neurogenomics to Dissect Disease Mechanisms Across Models. 功能神经基因组学分析跨模型疾病机制。

IF 7.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2025-05-05 DOI: 10.1146/annurev-genom-120823-125811

Xinhe Zheng, Jiwen Li, Xin Jin

引用次数: 0

Breast Cancer: Genetic Risk Assessment, Diagnostics, and Therapeutics in African Populations. 乳腺癌：非洲人群的遗传风险评估、诊断和治疗。

IF 7.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2025-04-28 DOI: 10.1146/annurev-genom-111522-013953

Achille V C Manirakiza, Leon Mutesa, Christopher G Mathew, Olufunmilayo I Olopade

{"title":"Breast Cancer: Genetic Risk Assessment, Diagnostics, and Therapeutics in African Populations.","authors":"Achille V C Manirakiza, Leon Mutesa, Christopher G Mathew, Olufunmilayo I Olopade","doi":"10.1146/annurev-genom-111522-013953","DOIUrl":"https://doi.org/10.1146/annurev-genom-111522-013953","url":null,"abstract":"Breast cancer is a major public health burden that disproportionately affects women of African descent. Substantial progress has been made in understanding the genetic and biological drivers of breast cancer worldwide. However, this knowledge is unevenly distributed among all women with breast cancer, particularly those of African descent. The highlights of nearly three decades of research among women of African descent point mainly to a young age at diagnosis, aggressive disease, and distinct biomarkers, as well as a clear geographical distribution of disease subtypes and genetic variants. Despite this growing wealth of information, the African population's access to genetic care and understanding of inherited risk and disease biology remain limited. This review summarizes the state of knowledge on genetic risk in African populations with breast cancer, evaluates the strengths and limitations of the methodological approaches used, and suggests innovative strategies to ensure equitable participation in cancer genetic and genomic research. We discuss genotype-phenotype correlations and the inherited risk of breast cancer, including both rare and common genetic variants. We also address the role of somatic drivers of breast cancer, disease biomarkers, treatment targets, and pharmacogenomics in this population. Finally, we provide recommendations to enable future progress in diagnosis and treatment.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":" ","pages":""},"PeriodicalIF":7.7,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143966865","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Copy Number Variants: Deletion and Duplication Syndromes. 拷贝数变异：缺失和重复综合征。

IF 7.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2025-04-25 DOI: 10.1146/annurev-genom-121222-120601

Matthew K Harner, Daniela V Bishop, Rebecca M Pollak, Ryan H Purcell, Jennifer G Mulle

引用次数: 0

The Genomics of Aging at the Single-Cell Scale. 单细胞尺度上的衰老基因组学。

IF 7.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2025-04-25 DOI: 10.1146/annurev-genom-120523-024422

Wei Zhou, Junyue Cao

引用次数: 0

Human Synthetic Biology and Programmable Gene Regulation Control. 人类合成生物学与可编程基因调控控制。

IF 7.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2025-04-25 DOI: 10.1146/annurev-genom-120423-013542

Abby R Thurm, Geovanni L Janer Carattini, Lacramioara Bintu

引用次数: 0

Indigenous Data Sovereignty in Genomics and Human Genetics: Genomic Equity and Justice for Indigenous Peoples. 基因组学和人类遗传学中的土著数据主权：土著人民的基因组公平和正义。

IF 7.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2025-04-18 DOI: 10.1146/annurev-genom-022024-125543

Nicole B Halmai, Riley Taitingfong, Lydia L Jennings, Joseph Yracheta, Ibrahim Garba, Justin R Lund, Caleigh A Curley, Katrina G Claw, Maile Taualii, Nanibaa' A Garrison, Stephanie Russo Carroll

{"title":"Indigenous Data Sovereignty in Genomics and Human Genetics: Genomic Equity and Justice for Indigenous Peoples.","authors":"Nicole B Halmai, Riley Taitingfong, Lydia L Jennings, Joseph Yracheta, Ibrahim Garba, Justin R Lund, Caleigh A Curley, Katrina G Claw, Maile Taualii, Nanibaa' A Garrison, Stephanie Russo Carroll","doi":"10.1146/annurev-genom-022024-125543","DOIUrl":"https://doi.org/10.1146/annurev-genom-022024-125543","url":null,"abstract":"As the field of genomics and human genetics continues to push our understanding of disease and biodiversity through an ever-increasing pool of genomic data, it is critical to consider the social, ethical, and legal implications of using such data. This is particularly true for genomic data pertaining to Indigenous Peoples, much of which has been collected and (re)used in research without the informed consent of Indigenous communities or without the return of benefits of research discoveries to these communities. Indigenous data sovereignty (IDSov) provides a framework through which Indigenous Peoples can assert their right to control data on or about their communities and lands. Here, we provide a review of IDSov and recommendations for how researchers can integrate it into their genomic research with Indigenous Peoples. Inclusion of IDSov in genomic research design supports meaningful partnerships between researchers and Indigenous communities, ensuring the maximization of benefits and minimization of harms for improved community health and prosperity.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":" ","pages":""},"PeriodicalIF":7.7,"publicationDate":"2025-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143953024","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0