已入深夜,您辛苦了!由于当前在线用户较少,发布求助请尽量完整的填写文献信息,科研通机器人24小时在线,伴您度过漫漫科研夜!祝你早点完成任务,早点休息,好梦!

The mutation c.346-1G > A in SOHLH1 impairs sperm production in the homozygous but not in the heterozygous condition

生物 突变 突变体 精子 遗传学 杂合子优势 男科 基因 复合杂合度 男性不育 合子 等位基因 错义突变
作者
Mohan Liu,Yihong Yang,Yan Wang,Su-Ren Chen,Ying Shen
出处
期刊:Human Molecular Genetics [Oxford University Press]
卷期号:31 (7): 1013-1021 被引量:3
标识
DOI:10.1093/hmg/ddab242
摘要

Non-obstructive azoospermia (NOA) is an important cause of male infertility, and the genetic pathogenesis is still incompletely understood. The previous study reported that heterozygous mutation of c.346-1G > A in spermatogenesis and oogenesis specific basic helix-loop-helix 1 (SOHLH1) was identified in two NOA patients and suggested it is the pathogenic factor for NOA. However, in our research, this heterozygous mutation was confirmed in three Chinese infertile patients who suffered from teratozoospermia, but they had normal sperm number. Intriguingly, a homozygous mutation of c.346-1G > A in SOHLH1 was detected in a severe oligozoospermia (SOZ) patient, characterized with severely decreased sperm count. Notably, we unprecedently revealed that this homozygous mutation of c.346-1G > A in SOHLH1 leads to the sharp decrease in various germ cells and spermatogenesis dysfunction, which is similar to the phenotype of SOHLH1 knockout male mice. Moreover, western blotting confirmed that the homozygous mutation declined SOHLH1 protein expression. Additionally, we correlated the good prognosis of intracytoplasmic sperm injection (ICSI) in the patients carrying the mutation of c.346-1G > A in SOHLH1. Thus, we suggested that the heterozygous mutation of c.346-1G > A in SOHLH1 is responsible for teratozoospermia, and this homozygous mutation in SOHLH1 impairs spermatogenesis and further leads to the reduced sperm count, eventually causing male infertility, which unveils a new recessive-inheritance pattern of SOHLH1-associated male infertility initially.
最长约 10秒,即可获得该文献文件

科研通智能强力驱动
Strongly Powered by AbleSci AI
更新
大幅提高文件上传限制,最高150M (2024-4-1)

科研通是完全免费的文献互助平台,具备全网最快的应助速度,最高的求助完成率。 对每一个文献求助,科研通都将尽心尽力,给求助人一个满意的交代。
实时播报
1秒前
1秒前
敏感子骞完成签到,获得积分10
1秒前
程老板完成签到 ,获得积分10
5秒前
Levent发布了新的文献求助10
5秒前
5秒前
李爱国应助敏感子骞采纳,获得10
6秒前
IrisYu发布了新的文献求助30
6秒前
6秒前
6秒前
旭日东升发布了新的文献求助20
7秒前
Caden发布了新的文献求助10
7秒前
万能图书馆应助wangting采纳,获得10
9秒前
Anan发布了新的文献求助10
11秒前
12秒前
13秒前
15秒前
小段发布了新的文献求助20
16秒前
灿cancan发布了新的文献求助10
17秒前
羊羊羊完成签到,获得积分10
17秒前
18秒前
沙漠水发布了新的文献求助10
19秒前
Anan完成签到,获得积分20
20秒前
敏感子骞发布了新的文献求助10
21秒前
foreverbigbao发布了新的文献求助10
23秒前
26秒前
灿cancan完成签到,获得积分20
28秒前
华仔应助动听的雨采纳,获得10
29秒前
cici完成签到 ,获得积分10
29秒前
wei完成签到,获得积分10
29秒前
30秒前
30秒前
xueshu666完成签到 ,获得积分10
30秒前
泥巴发布了新的文献求助10
33秒前
joy发布了新的文献求助10
33秒前
科研通AI2S应助foreverbigbao采纳,获得10
33秒前
wyyyyyyyt应助foreverbigbao采纳,获得10
33秒前
and999发布了新的文献求助10
34秒前
李爱国应助科研通管家采纳,获得30
34秒前
爆米花应助科研通管家采纳,获得10
34秒前
高分求助中
The late Devonian Standard Conodont Zonation 2000
Nickel superalloy market size, share, growth, trends, and forecast 2023-2030 2000
The Lali Section: An Excellent Reference Section for Upper - Devonian in South China 1500
Smart but Scattered: The Revolutionary Executive Skills Approach to Helping Kids Reach Their Potential (第二版) 1000
Very-high-order BVD Schemes Using β-variable THINC Method 830
Mantiden: Faszinierende Lauerjäger Faszinierende Lauerjäger 800
PraxisRatgeber: Mantiden: Faszinierende Lauerjäger 800
热门求助领域 (近24小时)
化学 医学 生物 材料科学 工程类 有机化学 生物化学 物理 内科学 纳米技术 计算机科学 化学工程 复合材料 基因 遗传学 催化作用 物理化学 免疫学 量子力学 细胞生物学
热门帖子
关注 科研通微信公众号,转发送积分 3248551
求助须知:如何正确求助?哪些是违规求助? 2891977
关于积分的说明 8269308
捐赠科研通 2560053
什么是DOI,文献DOI怎么找? 1388842
科研通“疑难数据库(出版商)”最低求助积分说明 650913
邀请新用户注册赠送积分活动 627798