“Micro-deletions” of the human Y chromosome and their relationship with male infertility

来源 :遗传学报 | 被引量 : 0次 | 上传用户:cznay
下载到本地 , 更方便阅读
声明 : 本文档内容版权归属内容提供方 , 如果您对本文有版权争议 , 可与客服联系进行内容授权或下架
论文部分内容阅读
The Y chromosome evolves from an autochromosome and accumulates male-related genes including sex-determining region of Y-chromosome (SRY) and several spermatogenesis-related genes.The human Y chromosome (60 Mb long) is largely composed of repeti-tive sequences that give it a heterochromatic appearance,and it consists of pseudoautosomal,euchromatic,and heterochromatic regions.Located on the two extremities of the Y chromosome,pseudoautosomal regions 1 and 2 (PAR1 and PAR2,2.6 Mb and 320 bp long,re-spectively) are homologs with the termini of the X chromosome.The euchromatic region and some of the repeat-rich heterochromatic parts of the Y chromosome are called "male-specific Y" (MSY),which occupy more than 95% of the whole Y chromosome.After evolu-tion,the Y chromosome becomes the smallest in size with the least number of genes but with the most number of copies of genes that are mostly spermatogenesis-related.The Y chromosome is characterized by highly repetitive sequences (including direct repeats,inverted repeats,and palindromes) and high polymorphism.Several gene rearrangements on the Y chromosome occur during evolution owing to its specific gene structure.The consequences of such rearrangements are not only loss but also gain of specific genes.One hundred and fifty three haplotypes have been discovered in the human Y chromosome.The structure of the Y chromosome in the GenBank belongs to haplotype R1.There are 220 genes (104 coding genes,111 pseudogenes,and 5 other uncategorized genes) according to the most recent count.The 104 coding genes encode a total of about 48 proteins/protein families (including putative proteins/protein families).Among them,16 gene products have been discovered in the azoospermia factor region (AZF) and are related to spermatogenesis.It has been dis-covered that one subset of gene rearrangements on the Y chromosome,"micro-deletions",is a major cause of male infertility in some populations.However,controversies exist about different Y chromosome haplotypes.Six AZFs of the Y chromosome have been discov-ered including AZFa,AZFb,AZFc,and their combinations AZFbc,AZFabc,and partial AZFc called AZFc/gr/gr.Different deletions in AZF lead to different content spermatogenesis loss from teratozoospermia to infertility in different populations depending on their Y hap-lotypes.This article describes the structure of the human Y chromosome and investigates the causes of micro-deletions and their relation-ship with male infertility from the view of chromosome evolution.After analysis of the relationship between AZFc and male infertility,we concluded that spermatogenesis is controlled by a network of genes,which may locate on the Y chromosome,the autochromosomes,or even on the X chromosome.Further investigation of the molecular mechanisms underlying male fertility/infertifity will facilitate our knowledge of functional genomics.
其他文献
甘油-3-磷酸酰基转移酶(Glycerol-3-phosphate acyltransferases,GPATs;EC 2.3.1.15)是植物种子中储藏性油脂三脂酰甘油(Triacylglycerols,TAGs)合成中的一个关键酶,它催化甘
通过Real-time PCR分析了不同生育时期7个大豆异黄酮合成相关酶基因(PAL,C4H,4CL,CHS,CHI,IFS和F3H)的相对表达情况。并利用高效液相色谱法测定了籽粒发育过程中豆荚(含籽粒)
高分辨率熔解曲线分析法可准确检测单核苷酸多态性,具有稳定性和高效性的特点.建立基于HRM的SNP检测方法,确立最佳的反应体系和反应条件是后续基因分型研究的前提和基础.Fad3
为对转基因大豆新株系的主要农艺性状进行科学评价,对已获得耐盐碱性状显著的转GsCa2+-ATPase基因大豆的3个株系HF50-CA-1、HF55-CA-1、HF55-CA-2的T3植株进行种子萌发率、种
研究了商豆6号3 784.5kg·hm-2产量的群体生育动态及生理指标。结果表明,在密度181 350~191 850株.hm-2、单株成荚65.4~72.3个、单株粒数137.3~145.2个、百粒重16.6~17.2 g条件下
对吉林省中部两种栽培模式下大豆干物质及养分累积特征的分析,拟探明不同栽培模式下植株生育特征及氮磷钾累积特性。结果表明,高产栽培模式产量为2 268.0kg·hm-2,比常规栽培
自改革开放以来,我国经济建设取得举世瞩目的成就。然而,随着世界各地交往的不断扩大,我国人民的价值观不可避免地走向了多元化。当前我国许多企业在文化塑造上面临诸多困境,
大造桥虫是危害大豆的主要食叶性害虫之一。为了明确大造桥虫幼虫发育龄期及各龄期对大豆叶片的取食量,深入研究其取食危害规律,采用离体叶片单头饲养法,系统观测幼虫生长发
以两个转W16基因小麦株系及相应的受体对照品种为材料,在大田控水的条件下研究了水分胁迫对转基因小麦抽穗期相关生理特性的影响,利用方差分析方法对转基因株系的抗旱性进行
Polo样激酶1(polo-like kinases 1,PLK1)作为抗肿瘤药物的靶标,在过去十年里得到了广泛的研究.目前,已有多个PLK1抑制剂进入临床研究.已报道的PLK1抑制剂的化学结构类型较多,