Post-implantation analysis of genomic variations in the progeny from developing fetus to birth

doi:10.1186/s40246-024-00634-4

科研成果详情

题名	Post-implantation analysis of genomic variations in the progeny from developing fetus to birth
作者	Zheng, Yingming 1; Lin, Chuanping1,2,3; Wang, Wen-Jing 4; Wang, Liya 1; Qian, Yeqing 1; Mao, Luna 1; Li, Baohua 1; Lou, Lijun 5; Mao, Yuchan 1; Li, Na 1; Zheng, Jiayong 1; Jiang, Nan 6; He, Chaying 7; Wang, Qijing 1; Zhou, Qing 4; Chen, Fang 4; Jin, Fan 1
发表日期	2024-07-15
发表期刊	Human Genomics 影响因子和分区
语种	英语
原始文献类型	Article
关键词	Whole-genome sequencing (WGS) SNV De novo indels Newborns
其他关键词	NOVO ; FRAMEWORK ; DISEASE
摘要	The analysis of genomic variations in offspring after implantation has been infrequently studied. In this study, we aim to investigate the extent of de novo mutations in humans from developing fetus to birth. Using high-depth whole-genome sequencing, 443 parent-offspring trios were studied to compare the results of de novo mutations (DNMs) between different groups. The focus was on fetuses and newborns, with DNA samples obtained from the families' blood and the aspirated embryonic tissues subjected to deep sequencing. It was observed that the average number of total DNMs in the newborns group was 56.26 (54.17-58.35), which appeared to be lower than that the multifetal reduction group, which was 76.05 (69.70-82.40) (F = 2.42, P = 0.12). However, after adjusting for parental age and maternal pre-pregnancy body mass index (BMI), significant differences were found between the two groups. The analysis was further divided into single nucleotide variants (SNVs) and insertion/deletion of a small number of bases (indels), and it was discovered that the average number of de novo SNVs associated with the multifetal reduction group and the newborn group was 49.89 (45.59-54.20) and 51.09 (49.22-52.96), respectively. No significant differences were noted between the groups (F = 1.01, P = 0.32). However, a significant difference was observed for de novo indels, with a higher average number found in the multifetal reduction group compared to the newborn group (F = 194.17, P < 0.001). The average number of de novo indels among the multifetal reduction group and the newborn group was 26.26 (23.27-29.05) and 5.17 (4.82-5.52), respectively. To conclude, it has been observed that the quantity of de novo indels in the newborns experiences a significant decrease when compared to that in the aspirated embryonic tissues (7-9 weeks). This phenomenon is evident across all genomic regions, highlighting the adverse effects of de novo indels on the fetus and emphasizing the significance of embryonic implantation and intrauterine growth in human genetic selection mechanisms.
资助项目	National Natural Science Foundation of China
出版者	BMC
ISSN	1473-9542
EISSN	1479-7364
卷号	18 期号:1
DOI	10.1186/s40246-024-00634-4
页数	11
WOS类目	Genetics & Heredity
WOS研究方向	Genetics & Heredity
WOS记录号	WOS:001267794600001
收录类别	SCIE ; SCOPUS ; PUBMED
URL	查看原文
PubMed ID	39010135
SCOPUSEID	2-s2.0-85198362260
通讯作者地址	[Jin, Fan]Zhejiang Univ, Womens Reprod Hlth Lab Zhejiang Prov, Dept Reprod Endocrinol, Key Lab Reprod Genet,Natl Minist Educ,Womens Hosp,, 1 Xueshi Rd, Hangzhou 310006, Zhejiang, Peoples R China.
Scopus学科分类	Molecular Medicine;Molecular Biology;Genetics;Drug Discovery
SCOPUS_ID	SCOPUS_ID:85198362260
引用统计
文献类型	期刊论文
条目标识符	https://kms.wmu.edu.cn/handle/3ETUA0LF/216701
专题	附属第二医院附属第二医院_生殖医学中心第二临床医学院、附属第二医院、育英儿童医院其他_附属东阳医院（东阳市人民医院）
通讯作者	Jin, Fan
作者单位	1.Zhejiang Univ, Womens Reprod Hlth Lab Zhejiang Prov, Dept Reprod Endocrinol, Key Lab Reprod Genet,Natl Minist Educ,Womens Hosp,, 1 Xueshi Rd, Hangzhou 310006, Zhejiang, Peoples R China; 2.Wenzhou Med Coll, Reprod Med Ctr, Affiliated Hosp 2, Wenzhou 325027, Zhejiang, Peoples R China; 3.Yuying Childrens Hosp, Wenzhou 325027, Zhejiang, Peoples R China; 4.BGI Res, Shenzhen 518083, Guangdong, Peoples R China; 5.Wenzhou Med Univ, Affiliated Dongyang Hosp, Dongyang 322100, Zhejiang, Peoples R China; 6.Zhejiang Univ, Affiliated Hosp 1, Reprod Med Ctr, Sch Med, Hangzhou 310003, Zhejiang, Peoples R China; 7.Hangzhou Matern & Child Hlth Care Hosp, Hangzhou Womens Hosp, Hangzhou 310008, Zhejiang, Peoples R China
推荐引用方式 GB/T 7714	Zheng, Yingming,Lin, Chuanping,Wang, Wen-Jing,et al. Post-implantation analysis of genomic variations in the progeny from developing fetus to birth[J]. Human Genomics,2024,18(1).
APA	Zheng, Yingming., Lin, Chuanping., Wang, Wen-Jing., Wang, Liya., Qian, Yeqing., ... & Jin, Fan. (2024). Post-implantation analysis of genomic variations in the progeny from developing fetus to birth. Human Genomics, 18(1).
MLA	Zheng, Yingming,et al."Post-implantation analysis of genomic variations in the progeny from developing fetus to birth".Human Genomics 18.1(2024).