Journal of Human Genetics最新文献

Identification of biallelic intronic EPM2A mutations in a Lafora disease kindred. 在一个拉弗拉病种系中鉴定出双拷贝内含子 EPM2A 突变。

IF 2.6 3区生物学

Journal of Human Genetics Pub Date : 2024-11-19 DOI: 10.1038/s10038-024-01306-w

Ruo-Nan Duan, Jin-De Liu, Xiu-He Zhao, Cheng-Yuan Song

{"title":"Identification of biallelic intronic EPM2A mutations in a Lafora disease kindred.","authors":"Ruo-Nan Duan, Jin-De Liu, Xiu-He Zhao, Cheng-Yuan Song","doi":"10.1038/s10038-024-01306-w","DOIUrl":"10.1038/s10038-024-01306-w","url":null,"abstract":"Lafora disease (LD) is a severe autosomal recessive disease, which usually presents as seizure and myoclonus, followed by behavioral changes, dysarthria, intellectual decline, and finally progressed to dementia and a vegetative state. The main cause of LD is the loss-of-function mutations in EPM2A and NHLRC1 that encode laforin and malin, respectively. Targeted genetic testing is the gold standard to confirm the diagnosis of LD. To describe the pathogenic role of biallelic EPM2A intronic mutations carried by patients in a family diagnosed as LD. Here, we present clinical findings in a patient presenting with epileptic seizures and Lafora bodies in muscle biopsy. Long-read DNA and RNA sequencing were performed to identify the causative mutation. Western blot and qPCR confirmed the pathogenic role of biallelic EPM2A intronic mutations. Genetic testing identified two intronic mutations in EPM2A which caused aberrant mRNA splicing. c.301+1 G > A in EPM2A caused aberrant splicing at donor site and resulted in intron retention in transcript NM_005670.4, while c.476+14860 C > A caused aberrant splicing in transcript NM_001368129.2 and NM_001368132.1. Our findings expand the spectrum of variants in LD disease, additionally providing evidence linking non-coding regulatory regions mutations to LD disease.","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142668303","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

Expanding the spectrum of HSPB8-related myopathy: a novel mutation causing atypical pediatric-onset axial and limb-girdle involvement with autophagy abnormalities and molecular dynamics studies. 扩大HSPB8相关肌病的范围：一种新型突变导致非典型儿科发病性轴向和肢腰受累，并伴有自噬异常和分子动力学研究。

IF 2.6 3区生物学

Journal of Human Genetics Pub Date : 2024-11-15 DOI: 10.1038/s10038-024-01305-x

Guiguan Yang, Xiaoqing Lv, Mengqi Yang, Yifei Feng, Guangyu Wang, Chuanzhu Yan, Pengfei Lin

{"title":"Expanding the spectrum of HSPB8-related myopathy: a novel mutation causing atypical pediatric-onset axial and limb-girdle involvement with autophagy abnormalities and molecular dynamics studies.","authors":"Guiguan Yang, Xiaoqing Lv, Mengqi Yang, Yifei Feng, Guangyu Wang, Chuanzhu Yan, Pengfei Lin","doi":"10.1038/s10038-024-01305-x","DOIUrl":"https://doi.org/10.1038/s10038-024-01305-x","url":null,"abstract":"Variants in HSPB8 are predominantly associated with peripheral neuropathies, but their occurrence in myopathies remains exceedingly rare. The genetic and clinical spectrum of HSPB8-related myopathy is not yet complete. Herein, we not only described the first Chinese case of HSPB8-related myopathy characterized by a novel heterozygous frameshift variant (c.576_579delinsCAG, p.Glu192Aspfs*55) in the C-terminal region of HSPB8, but also established the first association between this specific HSPB8 variant and pediatric-onset axial and limb-girdle myopathy. Muscle pathology revealed myofibrillar myopathy features and the novel pathological findings of inflammatory responses and vacuoles with sarcolemmal features pathology. Functional studies demonstrated significant colocalization of HSPB8 with autophagy markers and upregulation of autophagy-related proteins, which suggested that autophagic dysregulation may contribute to the pathological process of this disease. Furthermore, comprehensive bioinformatics analysis and molecular dynamics simulations revealed an increased propensity for aggregation, as well as altered structural and biochemical properties in the mutant HSPB8. Our study highlights the importance of considering HSPB8 mutations in early-onset axial and limb-girdle myopathy, expanding the genetic and phenotypic spectrum of the disease. Notably, our results underscore the critical role of autophagy dysregulation and aberrant protein aggregation in the pathogenesis, providing novel insights into potential therapeutic targets.","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142639197","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

Novel variants in DNAH9 are present in two infertile patients with severe asthenospermia. 两名患有严重少精症的不育患者体内存在 DNAH9 的新型变体。

IF 2.6 3区生物学

Journal of Human Genetics Pub Date : 2024-11-11 DOI: 10.1038/s10038-024-01304-y

Fei Yan, Weiwei Zhi, Yazhen Wei, Li Dai, Wenming Xu, Rui Zheng

{"title":"Novel variants in DNAH9 are present in two infertile patients with severe asthenospermia.","authors":"Fei Yan, Weiwei Zhi, Yazhen Wei, Li Dai, Wenming Xu, Rui Zheng","doi":"10.1038/s10038-024-01304-y","DOIUrl":"https://doi.org/10.1038/s10038-024-01304-y","url":null,"abstract":"Asthenospermia is a type of sperm that has malformed sperm with movement disorders that lead to male infertility. DNAH9 is a member of the dynein family and a central part of the outer dynein arm of cilia and flagella. DNAH9 gene defects are associated with primary ciliary dyskinesia and ultrastructural abnormalities in ciliary axial ultrastructure. However, the role of DNAH9 in sperm motility remains unclear, prompting us to investigate its function in spermatozoa. Familial Sanger sequencing showed that sterile males carried homozygous DNAH9 variants (c. 12218A>C, p. N4073T) and compound heterozygous variants (c.8617G>A, p.V2873M; c.11742A>T, p.E3914D), respectively. Transmission electron microscopy revealed these variants resulted in a significant lack of outer dynein arms in the cross-sectional view of the axoneme in both patients. Immunofluorescence results showed that these variants can lead to decline in DNAH9 protein expression, which led to the dysfunction of flagellar ultrastructure-related proteins, including DNAI1, DNAH1 and DNAH10. In conclusion, we identified novel biallelic variants in DNAH9 that likely bring about sharply decreased motility of spermatozoa in the two patients with asthenospermia. Our findings will widen the variant spectrum of known DNAH9 variants involving asthenospermia and further offer more proofs for genetic counseling and diagnosis.","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142621968","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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 distribution of regions of homozygosity (ROH) among consanguineous populations-implications for a routine genetic counseling service. 近亲结婚人群中同源性区域（ROH）的分布--对常规遗传咨询服务的影响。

IF 2.6 3区生物学

Journal of Human Genetics Pub Date : 2024-11-06 DOI: 10.1038/s10038-024-01303-z

Chen Gafni-Amsalem, Nasim Warwar, Morad Khayat, Yasmin Tatour, Olfat Abuleil-Zuabi, Salvatore Campisi-Pinto, Shai Carmi, Stavit A Shalev

{"title":"The distribution of regions of homozygosity (ROH) among consanguineous populations-implications for a routine genetic counseling service.","authors":"Chen Gafni-Amsalem, Nasim Warwar, Morad Khayat, Yasmin Tatour, Olfat Abuleil-Zuabi, Salvatore Campisi-Pinto, Shai Carmi, Stavit A Shalev","doi":"10.1038/s10038-024-01303-z","DOIUrl":"https://doi.org/10.1038/s10038-024-01303-z","url":null,"abstract":"Regions of homozygosity (ROH) increase the risk of recessive disorders, and guidelines recommend reporting of excessive ROH in prenatal testing. However, ROH are common in populations that practice endogamy or consanguinity, and cutoffs for reporting ROH in such populations may not be evidence-based. We reviewed prenatal testing results (based on cytogenetic microarrays) from 2191 pregnancies in the Jewish and non-Jewish populations of Northern Israel and estimated the prevalence of ROH according to self-reported ethnicity and parental relationships. The proportion of the genome in ROH, ROH rate, was higher in non-Jews [Mean (SD) = 2.91% (3.92%); max = 25.54%; N = 689] than in Jews [Mean (SD) = 0.81% (0.49%); max = 3.93%; N = 1502]. In the non-Jewish populations, consanguineous marriages had the highest ROH rates [Mean (SD) = 7.14% (4.55%), N = 217], followed by endogamous [Mean (SD) = 1.13% (1.09%), N = 283] and non-endogamous [Mean (SD) = 0.69%(0. 56%), N = 189] marriages. ROH rates were greater than 5%, the ACMG-recommended cutoff, in 149/689 (21.63%) of the non-Jewish samples. Within the Jewish populations, the rates were similar between Ashkenazi, North African, and Middle Eastern Jews, but were higher for six consanguineous unions [Mean (SD) = 2.38% (1.23%)] and when spouses belonged to the same sub-population. Given the high ROH rates we observed in some subjects, we suggest that assessing the risk for recessive conditions in consanguineous/endogamous populations should be done before the first pregnancy, through genetic counseling and sequencing. Such an approach will: (1) identify couples who are at risk and counsel them on reproductive options; and (2) avoid the stress that couples who are not at risk may experience due to a prenatal ROH report.","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142583490","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

Homozygous synonymous FAM111A variant underlies an autosomal recessive form of Kenny-Caffey syndrome. 同义 FAM111A 变异是肯尼-卡菲综合征常染色体隐性遗传的基础。

IF 2.6 3区生物学

Journal of Human Genetics Pub Date : 2024-11-06 DOI: 10.1038/s10038-024-01301-1

Loisa Dana Bonde, Ibrahim M Abdelrazek, Lara Seif, Malik Alawi, Khaled Matrawy, Karim Nabil, Ebtesam Abdalla, Kerstin Kutsche, Frederike Leonie Harms

{"title":"Homozygous synonymous FAM111A variant underlies an autosomal recessive form of Kenny-Caffey syndrome.","authors":"Loisa Dana Bonde, Ibrahim M Abdelrazek, Lara Seif, Malik Alawi, Khaled Matrawy, Karim Nabil, Ebtesam Abdalla, Kerstin Kutsche, Frederike Leonie Harms","doi":"10.1038/s10038-024-01301-1","DOIUrl":"10.1038/s10038-024-01301-1","url":null,"abstract":"FAM111A (family with sequence similarity 111 member A) is a serine protease and removes covalent DNA-protein cross-links during DNA replication. Heterozygous gain-of-function variants in FAM111A cause skeletal dysplasias, such as the perinatal lethal osteocraniostenosis and the milder Kenny-Caffey syndrome (KCS). We report two siblings born to consanguineous parents with dysmorphic craniofacial features, postnatal growth retardation, ophthalmologic manifestations, hair and nail anomalies, and skeletal abnormalities such as thickened cortex and stenosis of the medullary cavity of the long bones suggestive of KCS. Using exome sequencing, a homozygous synonymous FAM111A variant, NM_001312909.2:c.81 G > A; p.Pro27=, that affects the last base of the exon and is predicted to alter FAM111A pre-mRNA splicing, was identified in both siblings. We identified aberrantly spliced FAM111A transcripts, reduced FAM111A mRNA levels, and near-complete absence of FAM111A protein in fibroblasts of both patients. After treatment of patient and control fibroblasts with different concentrations of camptothecin that induces covalent DNA-protein cross-links, we observed a tendency towards a reduced proportion of metabolically active cells in patient compared to control fibroblasts. However, under these culture conditions, we did not find consistent and statistically significant differences in cell cycle progression and apoptotic cell death between patient and control cells. Our findings show that FAM111A deficiency underlies an autosomal recessive form of FAM111A-related KCS. Based on our results and published data, we hypothesize that loss of FAM111A and FAM111A protease hyperactivity, as observed for gain-of-function patient-variant proteins, may converge on a similar pathomechanism underlying skeletal dysplasias.","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142583488","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

First description of novel compound heterozygous mutations in HYCC1: clinical evaluations and molecular analysis in patient with hypomyelinating leukodystrophy-5 with retrospective view. 首次描述 HYCC1 的新型复合杂合突变：对骨髓营养不良性白质营养不良症-5 患者的临床评估和分子分析回顾。

IF 2.6 3区生物学

Journal of Human Genetics Pub Date : 2024-10-28 DOI: 10.1038/s10038-024-01300-2

Abir Ben Issa, Fatma Kamoun, Boudour Khabou, Wafa Bouchaala, Faiza Fakhfakh, Chahnez Triki

{"title":"First description of novel compound heterozygous mutations in HYCC1: clinical evaluations and molecular analysis in patient with hypomyelinating leukodystrophy-5 with retrospective view.","authors":"Abir Ben Issa, Fatma Kamoun, Boudour Khabou, Wafa Bouchaala, Faiza Fakhfakh, Chahnez Triki","doi":"10.1038/s10038-024-01300-2","DOIUrl":"https://doi.org/10.1038/s10038-024-01300-2","url":null,"abstract":"Hypomyelinating leukodystrophy-5 (HLD5) is a rare autosomal recessive hypomyelination disorder characterized by congenital cataract, progressive neurologic impairment, and myelin deficiency in the central and peripheral nervous system, caused by mutations in the HYCC1 gene. Here we report a 23-year-old girl with HLD5 from unrelated families. Molecular analysis was performed using sequence screening of the HYCC1 gene. In addition, in silico prediction tools and molecular investigation were used to predict the structural effect of the mutations. Results showed a novel compound heterozygous mutation in the HYCC1 gene. Moreover, in silico tools and 3D structural modeling revealed that c.521C > A (p.Ala174Glu) and c.652C > G (p.Gln218Glu) mutations could affect the structure, stability, and conformational analyses in the N-ter domain of the Hyccin protein. We also, we compared the phenotype of our patient with those of previously reported cases with HLD5 syndrome and our findings indicate the absence of reliable genotype-phenotype correlations. To the best of our knowledge, this is the first report describing a Tunisian HLD5 patient with compound heterozygous mutations (c.521C > A (p.Ala174Glu) and c.652C > G (p.Gln218Glu)) in HYCC1 gene.","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142522084","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

Novel homozygous ESAM variants in two families with perinatal strokes showing variable neuroradiologic and clinical findings. 两个围产期脑卒中家族中的新型同源ESAM变体显示出不同的神经放射学和临床结果。

IF 2.6 3区生物学

Journal of Human Genetics Pub Date : 2024-10-17 DOI: 10.1038/s10038-024-01297-8

Ghada M H Abdel-Salam, Asmaa Esmail, Dina Nagy, Sherif F Abdel-Ghafar, Mohamed S Abdel-Hamid

{"title":"Novel homozygous ESAM variants in two families with perinatal strokes showing variable neuroradiologic and clinical findings.","authors":"Ghada M H Abdel-Salam, Asmaa Esmail, Dina Nagy, Sherif F Abdel-Ghafar, Mohamed S Abdel-Hamid","doi":"10.1038/s10038-024-01297-8","DOIUrl":"https://doi.org/10.1038/s10038-024-01297-8","url":null,"abstract":"Biallelic loss of function variants in ESAM (endothelial cell adhesion molecule) have recently been reported in 14 individuals (9 families) presenting with prenatal intracranial hemorrhage. Here, we describe four patients from two unrelated families in whom three of them presented with variable onset encephalopathy and seizures while one only displayed profound delay without seizures. Brain MRI showed variable onset intracranial hemorrhage that evolved to hydrocephalus in 3 patients, whereas hemosiderin deposits, white matter volume loss, and porencephalic cysts were noted in one patient. Unlike the majority of described cases, the youngest brother of the first family did not show microcephaly and failure to thrive. Exome sequencing identified two novel homozygous ESAM variants. A splice variant (c.731-2A>G) was identified in one family which was confirmed by investigating the patient's mRNA to result in exon skipping and early protein truncation. In addition, a missense variant (c.561G>C; p.Trp187Cys) was identified in the other family, which is the first disease causing missense variant to be described in patients with ESAM deficient phenotype. In addition, a maternally inherited pathogenic MC4R variant (c.811T>C; p.Cys271 Arg) was also identified in the youngest brother of the first family. Variants in the MC4R gene are associated with a non-syndromic form of obesity that could explain the unusual macrocephaly and obesity. Our work establishes ESAM as a tight junction gene that can present with variable neuroradiological and clinical phenotypes when mutated. Moreover, it refines the phenotype of this ultrarare syndrome and extends the number and type of variants described to date.","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142467546","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

Biallelic missense CEP55 variants cause prenatal MARCH syndrome. 双倍错义 CEP55 变异导致产前 MARCH 综合征。

IF 2.6 3区生物学

Journal of Human Genetics Pub Date : 2024-10-16 DOI: 10.1038/s10038-024-01298-7

Li Fu, Yuka Yamamoto, Rie Seyama, Nana Matsuzawa, Mariko Nagaoka, Takashi Yao, Keisuke Hamada, Kazuhiro Ogata, Toshifumi Suzuki, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Atsushi Fujita, Atsuo Itakura, Naomichi Matsumoto

{"title":"Biallelic missense CEP55 variants cause prenatal MARCH syndrome.","authors":"Li Fu, Yuka Yamamoto, Rie Seyama, Nana Matsuzawa, Mariko Nagaoka, Takashi Yao, Keisuke Hamada, Kazuhiro Ogata, Toshifumi Suzuki, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Atsushi Fujita, Atsuo Itakura, Naomichi Matsumoto","doi":"10.1038/s10038-024-01298-7","DOIUrl":"https://doi.org/10.1038/s10038-024-01298-7","url":null,"abstract":"CEP55 encodes centrosomal protein 55 kDa, which plays a crucial role in mitosis, particularly cytokinesis. Biallelic CEP55 variants cause MARCH syndrome (multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly). Here, we describe a Japanese family with two affected siblings harboring novel compound heterozygous CEP55 variants, NM_001127182: c.[1357 C > T];[1358 G > A] p.[(Arg453Cys)];[(Arg453His)]. Both presented clinically with typical lethal MARCH syndrome. Although a combination of missense and nonsense variants has been reported previously, this is the first report of biallelic missense CEP55 variants. These variants biallelically affected the same amino acid, Arg453, in the last 40 amino acids of CEP55. These residues are functionally important for CEP55 localization to the midbody during cell division, and may be associated with severe clinical outcomes. More cases of pathogenic CEP55 variants are needed to establish the genotype-phenotype correlation.","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142467531","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

Two-hit mutation causes Wilms tumor in an individual with FBXW7-related neurodevelopmental syndrome. FBXW7相关神经发育综合征患者的Wilms瘤是由两个基因突变引起的。

IF 2.6 3区生物学

Journal of Human Genetics Pub Date : 2024-10-16 DOI: 10.1038/s10038-024-01299-6

Yoko Saito, Dai Keino, Yukiko Kuroda, Yumi Enomoto, Takuya Naruto, Yukichi Tanaka, Mio Tanaka, Hidehito Usui, Norihiko Kitagawa, Masakatsu Yanagimachi, Kenji Kurosawa

引用次数: 0

Genetic analysis of a Yayoi individual from the Doigahama site provides insights into the origins of immigrants to the Japanese Archipelago. 通过对土居浜遗址中的弥生个体进行基因分析，可以了解日本列岛移民的起源。

IF 2.6 3区生物学

Journal of Human Genetics Pub Date : 2024-10-15 DOI: 10.1038/s10038-024-01295-w

Jonghyun Kim, Fuzuki Mizuno, Takayuki Matsushita, Masami Matsushita, Saki Aoto, Koji Ishiya, Mami Kamio, Izumi Naka, Michiko Hayashi, Kunihiko Kurosaki, Shintaroh Ueda, Jun Ohashi

{"title":"Genetic analysis of a Yayoi individual from the Doigahama site provides insights into the origins of immigrants to the Japanese Archipelago.","authors":"Jonghyun Kim, Fuzuki Mizuno, Takayuki Matsushita, Masami Matsushita, Saki Aoto, Koji Ishiya, Mami Kamio, Izumi Naka, Michiko Hayashi, Kunihiko Kurosaki, Shintaroh Ueda, Jun Ohashi","doi":"10.1038/s10038-024-01295-w","DOIUrl":"https://doi.org/10.1038/s10038-024-01295-w","url":null,"abstract":"Mainland Japanese have been recognized as having dual ancestry, originating from indigenous Jomon people and immigrants from continental East Eurasia. Although migration from the continent to the Japanese Archipelago continued from the Yayoi to the Kofun period, our understanding of these immigrants, particularly their origins, remains insufficient due to the lack of high-quality genome samples from the Yayoi period, complicating predictions about the admixture process. To address this, we sequenced the whole nuclear genome of a Yayoi individual from the Doigahama site in Yamaguchi prefecture, Japan. A comprehensive population genetic analysis of the Doigahama Yayoi individual, along with ancient and modern populations in East Asia and Northeastern Eurasia, revealed that the Doigahama Yayoi individual, similar to Kofun individuals and modern Mainland Japanese, had three distinct genetic ancestries: Jomon-related, East Asian-related, and Northeastern Siberian-related. Among non-Japanese populations, the Korean population, possessing both East Asian-related and Northeastern Siberian-related ancestries, exhibited the highest degree of genetic similarity to the Doigahama Yayoi individual. The analysis of admixture modeling for Yayoi individuals, Kofun individuals, and modern Japanese respectively supported a two-way admixture model assuming Jomon-related and Korean-related ancestries. These results suggest that between the Yayoi and Kofun periods, the majority of immigrants to the Japanese Archipelago originated primarily from the Korean Peninsula.","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142467545","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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