A new type of inversion of a human Y chromosome.

Using chromosome banding techniques, a phenotypically normal male was found to have an abnormal banding pattern of the Y chromosome. By the constitutive heterochromatin staining method, a darkly stained band was located on the short arm and the proximal region of the long arm. The quinacrine staining method also showed a similar abnormal banding pattern: a brightly fluorescing band was seen on the short arm and the proximal region of the long arm. By the conventional Giemsa staining method, however, no specific morphological abnormality was detected in the aberrant Y. On detailed karyotype analyses no recognizable abnormality of banding patterns of any other chromosome was found aside from the abnormal Y. The abnormality was determined to be a complex inversion of the Y chromosome, which is described as 46,X,inv(Y)(pter leads to p11::q11 leads to q12::cen::q12 leads to qter).     

A pericentric inversion in the cattle Y chromosome

Sixteen male Podolian cattle, two sires and their 14 male offspring, were investigated cytogenetically on the basis of a female-like phenotype found in one of them. Eleven male offspring, including the one with female traits, and one of the two sires were found to carry an abnormal Y chromosome which originated from a pericentric inversion of the proximal half of the Yq arm (Yq11-->q12.2), as demonstrated by both banding and FISH mapping techniques with Y-specific molecular markers.     

The clinical significance of pericentric inversion of the human Y chromosome: a rare "third" type of heteromorphism

A 28-year-old normal East Indian was found to have a pericentric inversion of the Y chromosome. After reviewing the literature, it was concluded that an inverted Y chromosome does not impede the production of normal sperm and does not predispose to non-disjunction of other chromosomes in the progeny. Thus, the earlier concept of nondisjunction was rejected, and it is suggested that aberrant cases with aneuploidy and an inverted Y are fortuitous. The pericentric inverted Y is inherited from generation to generation and has no clinical significance. The prevalence of males with pericentric Y inversion in the general population is approximately 1 per 1000. It is suggested that a pericentric inversion of the Y chromosome is a rare chromosomal heteromorphism and should be called type III.     

A synopsis of the human Y chromosome

Summary Phenotypic features and functions known to depend on the presence of the Y chromosome or the H-Y antigen are discussed in relation to structural anomalies of the Y chromosome and other abnormalities of sexual and somatic development.Recent knowledge about molecular organization of constitutive heterochromatin in relation to the human Y is presented.An attempt is made at assigning different functions, genes and DNA sequence to different regions of the Y chromosome.     

A large pericentric inversion of human chromosome 8.

A large pericentric inversion, inv(8) (p11q24), was ascertained in a male investigated because his wife had had repeated miscarriages. The inversion segregated in 3 generations of the family, and no chromosomally unbalanced offspring were detected. The miscarriage and the inversion could not be causally related.     

A new case of familial paracentric inversion of chromosome 2

Summary A phenotypically otherwise normal homosexual man with a 46,XY,inv(2)(q21q33) karyotype inherited from his mother is described. The breakpoints were different from those observed in the only other case of familial paracentric inversion of chromosome 2 reported in the literature, but in our case they seem to correspond to constitutive and aphidicolin-induced fragile sites.     

The mammalian Y chromosome: a new perspective

For several decades, the mammalian Y chromosome was considered a genetic “desert,” with the testis determinant being the sole survivor of the attrition that followed the chromosome's inception. Aside from the addition of a genetic factor required for spermatogenesis to the human Y chromosome in 1976, this view held sway until the mid-1980s. The ensuing molecular genetic analysis, culminating in the recent paper in Science by Lahn and Page,¹ has identified more than 20 genes or gene families on the human Y. This has led to a reappraisal of the evolution and functions of this unique chromosome. BioEssays 20 :363–366, 1998. © 1998 John Wiley & Sons Inc.     

A database for human Y chromosome protein data

The human Y chromosome is the sex determining chromosome. The number of proteins associated with this chromosome is 196 and 107 of the 196 proteins have yet not been characterised. Here, we describe the analysis of these 107 proteins by computing various physicochemical properties using sequence and predicted structural data to elucidate molecular function. We present the derived data in the form a form a database made freely available for download, review, refinement and update.

Availability

http://puratham.googlepages.com/ or http://puratham.googlepages.com/ftpconnection     

Mapping the human Y chromosome

This paper reviews past and present trends in mapping the human Y chromosome. So far, mapping has essentially used a combination of cytogenetic and molecular analyses of Y-chromosomal anomalies and sex reversal syndromes. This deletion mapping culminated recently in the isolation of the putative sex-determining locus TDF. With the availability of new separation and cloning techniques suited for large size fragments (over 100 kilobases), the next step will consist rather in the establishment of a physical map of fragments of known physical sizes. This may allow the definition of several variants of the human Y chromosome differing by the order or location of DNA sequences along the molecule.     

Towards a complete sequence of the human Y chromosome

A few dozen genes are known on the human Y chromosome. The completion of the human genome sequence will allow identification of the remaining loci, which should shed further light on the function and evolution of this peculiar chromosome.     

Cytological map of human Y chromosome

The cytological map of human Y chromosome is investigated at high resolution using Q-banding technique. There was no segmentation of the short arm which is in disagreement with current International Nomenclature. Also, the band q11.22 was not seen in the long arm using different individuals with variable size of Y chromosome. Furthermore, the length variation of nonfluorescent segment is also noted which was not suggested by the nomenclature.     

人类Y染色体36个新STR位点的筛选与鉴定

通过对NCBI数据库中的Y-STR位点和生物信息学预测的新Y-STR位点的分析,选取了133个位点在48个全球分布的样本中进行检测验证,获得41个可靠的高频位点,其中36个为首次发现验证的新Y-STR位点。利用这41个Y-STR位点,在200个上海随机男性样本中共发现200种单倍型,实现了人群内个体间100%区分,并通过对浙江江山一姜氏聚集地的9个5代以内无血缘关系的姜氏个体和7个上海随机人群的姜氏个体的单倍型的分析,发现6个江山姜氏个体具较近的亲缘关系(彼此差异位点在2～4个之间)。这41个Y-STR位点具备较高的信息度,能有效区分群体内不同家族来源的个体,这将有助于群体内个体间近代亲缘关系研究,并有望在法医学法医个体识别、亲权鉴定,人类起源、迁徙等研究中发挥重大作用。     

人类Y染色体的演化

人类Y染色体由于其性别决定的特殊功能和独有的进化史一直以来都备受关注。Y染色体起源于常染色体,经历了严重的退化过程。由于其缺乏重组,蛋白编码基因少,重复序列多所以研究进展缓慢。近年来,随着比较基因组及测序技术的快速发展,对人类Y染色体最终命运的争论不断加剧,Y染色体的研究正逐步成为热点。文章综述了人类Y染色体的结构、遗传特点、起源及进化过程,并根据目前的研究进展对Y染色体的最终命运进行了讨论,提出了作者的一些看法,以期为从事遗传及性染色体进化的研究者提供参考。     

Population growth of human Y chromosomes: a study of Y chromosome microsatellites

We use variation at a set of eight human Y chromosome microsatellite loci to investigate the demographic history of the Y chromosome. Instead of assuming a population of constant size, as in most of the previous work on the Y chromosome, we consider a model which permits a period of recent population growth. We show that for most of the populations in our sample this model fits the data far better than a model with no growth. We estimate the demographic parameters of this model for each population and also the time to the most recent common ancestor. Since there is some uncertainty about the details of the microsatellite mutation process, we consider several plausible mutation schemes and estimate the variance in mutation size simultaneously with the demographic parameters of interest. Our finding of a recent common ancestor (probably in the last 120,000 years), coupled with a strong signal of demographic expansion in all populations, suggests either a recent human expansion from a small ancestral population, or natural selection acting on the Y chromosome.