Hypothesis: a Y-chromosomal gene causes gonadoblastoma in dysgenetic gonads

The role of the human Y chromosome in the etiology of gonadoblastoma, a gonadal neoplasm, is considered and a two-part model is presented. According to this hypothesis: (1) There is a gene on the Y chromosome that strongly predisposes dysgenetic gonads to develop gonadoblastomas (Page, 1986) and (2) this postulated GBY gene (GonadoBlastoma locus on Y chromosome) has some physiological function in normal males. GBY may, for example, function in or prior to spermatogenesis in normal testes. Y-DNA hybridization analysis of individuals with gonadoblastoma and partial deletions of the Y chromosome should be of use in testing this proposal. To date, such studies suggest that GBY maps to the region that includes deletion intervals 4B to 7, i.e. it is located near the centromere or on the long arm of the Y chromosome.

Download Full-text

A Deletion Map of the Human Y Chromosome Based on DNA Hybridization

Obstetrical & Gynecological Survey ◽

10.1097/00006254-198610000-00015 ◽

1986 ◽

Vol 41 (10) ◽

pp. 641-643 ◽

Cited By ~ 3

Author(s):

GILLES VERGNAUD ◽

DAVID C. PAGE ◽

MARIE-CHRISTINE SIMMLER ◽

LAURA BROWN ◽

FRANCOIS ROUYER ◽

...

Keyword(s):

Y Chromosome ◽

Dna Hybridization ◽

Human Y Chromosome

Download Full-text

Rich polymorphic variants of alpha satellite 34mer higher order repeats in hg38 assembly of human chromosome Y

10.1101/768861 ◽

2019 ◽

Author(s):

Ines Vlahović ◽

Matko Glunčić ◽

Vladimir Paar

Keyword(s):

Cell Division ◽

Y Chromosome ◽

Tandem Repeats ◽

Genomic Sequence ◽

Higher Order ◽

Alpha Satellite ◽

Satellite Dnas ◽

Polymorphic Variants ◽

Human Y Chromosome

AbstractA challenging problem in human population genetics is related to the unique role of human Y chromosome, with properties that distinguish humans from other species. Centromeres in primate genomes are constituted of tandem repeats of ∼ 171 bp alpha satellite monomers, commonly organized into higher order repats (HORs). Because of gaps in DNA sequencing, HOR regions as genomic “black holes” have been understudied in spite of crucial importance. Only recently the sequencing of more complete satellite DNAs becomes accessible. In human Y chromosome the largest alpha satellite higher order repeat unit 34/36mer was found, but its polymorphic variants were not investigated. Here, we study the human Y chromosome centromeric genomic sequence from hg38 assembly using our novel ALPHAsub algorithm for simple identification of alpha satellite arrays and robust GRM algorithm for HOR identification in repeat sequences. We determine the monomer alignment scheme for alpha satellite HOR array based on canonical 34mer HOR, discovering a wealth of novel polymorphic variants which include the HOR-type monomer duplications, monomer deletions/insertions or rearrangements and non-HOR insertions.Author SummaryThe centromere is important for segregation of chromosomes during cell division in eukaryotes. Its destabilization results in chromosomal missegregation, aneuploidy, hallmarks of cancers and birth defects. In primate genomes centromeres contain tandem repeats of ∼ 171 bp alpha satellite DNA, commonly organized into higher order repeats (HORs). In this work, we used our bioinformatics algorithms to study the human Y chromosome centromeric genomic sequence and we discover a wealth of novel polymorphic variants which include the HOR-type monomer duplications, monomer deletions/insertions or rearrangements and non-HOR insertions. These results could help to understand the role of alpha satellites and alpha HOR structures in centromeric organization and function, in particular their role in creating a functional kinetochore that is crucial for chromosome segregation during cell division.

Download Full-text

Patterns of Inter-Chromosomal Gene Conversion on the Male-Specific Region of the Human Y Chromosome

Frontiers in Genetics ◽

10.3389/fgene.2017.00054 ◽

2017 ◽

Vol 8 ◽

Cited By ~ 8

Author(s):

Beniamino Trombetta ◽

Eugenia D’Atanasio ◽

Fulvio Cruciani

Keyword(s):

Gene Conversion ◽

Y Chromosome ◽

Specific Region ◽

Chromosomal Gene ◽

Male Specific ◽

Human Y Chromosome

Download Full-text

II. Distribution of DNA base sequences Sequence organization of the human Y chromosome

Philosophical Transactions of the Royal Society of London Series B Biological Sciences ◽

10.1098/rstb.1978.0033 ◽

1978 ◽

Vol 283 (997) ◽

pp. 329-329

Keyword(s):

Y Chromosome ◽

Dna Hybridization ◽

Tandem Repeats ◽

Repetitive Sequences ◽

Male And Female ◽

Sequence Organization ◽

Dna Base ◽

Base Sequences ◽

Specific Sequences ◽

Human Y Chromosome

A comparison of restriction patterns of human male and female DNA after digestion with Hae III reveals two bands which are present only in male DNA and which are produced by cleavage of repetitive sequences found only on the human Y chromosome (Cooke 1976). Repetitive Y specific sequences can also be detected by exhaustive DNA/DNA hybridization (Kunkel, Smith & Boyer 1976). When DNA from one of these repetitive sequences is isolated as a fragment 3300 bases long from a Hae III digest of male DNA this material can be used as a probe for related sequences in male and female DNA. In both male and female DNA there is DNA which does not contain Hae III sites, which is complementary to this sequence and probably represents related tandem repeats. However, in male DNA fragments which are multiples of 3300 bases long are present showing that this sequence is tandemly repeated.

Download Full-text

The Human Y Chromosome: The Biological Role of a “Functional Wasteland”

Journal of Biomedicine and Biotechnology ◽

10.1155/s1110724301000080 ◽

2001 ◽

Vol 1 (1) ◽

pp. 18-24 ◽

Cited By ~ 53

Author(s):

Lluís Quintana-Murci ◽

Marc Fellous

Keyword(s):

Y Chromosome ◽

Male Fertility ◽

Its Sequence ◽

Distinguishing Characteristic ◽

Biological Functions ◽

Sry Gene ◽

Male Phenotype ◽

Mammalian Embryos ◽

Human Y Chromosome

“Functional wasteland,” “Nonrecombining desert” and “Gene-poor chromosome” are only some examples of the different definitions given to the Y chromosome in the last decade. In comparison to the other chromosomes, the Y is poor in genes, being more than 50% of its sequence composed of repeated elements. Moreover, the Y genes are in continuous decay probably due to the lack of recombination of this chromosome. But the human Y chromosome, at the same time, plays a central role in human biology. The presence or absence of this chromosome determines gonadal sex. Thus, mammalian embryos with a Y chromosome develop testes, while those without it develop ovaries (Polani [38]). What is responsible for the male phenotype is the testis-determining SRY gene (Sinclair [52]) which remains the most distinguishing characteristic of this chromosome. In addition to SRY, the presence of other genes with important functions has been reported, including a region associated to Turner estigmata, a gene related to the development of gonadoblastoma and, most important, genes related to germ cell development and maintenance and then, related with male fertility (Lahn and Page [31]). This paper reviews the structure and the biological functions of this peculiar chromosome.

Download Full-text

The role of the mammalian Y chromosome in spermatogenesis

Development ◽

10.1242/dev.101.supplement.133 ◽

1987 ◽

Vol 101 (Supplement) ◽

pp. 133-141

Author(s):

Paul S. Burgoyne

Keyword(s):

Y Chromosome ◽

Germ Cells ◽

Germ Line ◽

Fetal Life ◽

Chromosomal Gene ◽

Male Germ Line ◽

Germ Cell Differentiation ◽

Sperm Abnormalities ◽

Male Phenotype

All aspects of the mammalian male phenotype are due either directly or indirectly to Y-chromosome activity. This review summarizes what is known of the role of the Y in male germ cell differentiation in the mouse. The initial diversion of germ cells to the male pathway in fetal life (that is the formation of amitotic T1-prospermatogonia rather than meiotic oocytes) is an indirect effect of the Y: the Y-chromosomal testis determining gene (Tdy) acts to create a testis and the testicular environment causes the germ cells to follow the male pathway. XX and XO germ cells can therefore form T1-prospermatogonia, but the extra X of XX prospermatogonia in some way causes their death perinatally. The first direct effect of the Y in the germ line occurs at the initiation of the spermatogenic cycles (approx. 1 week after birth) when a Y-chromosomal gene (Spy) is needed for normal spermatogonial survival and progression to meiosis. Spy is present in the Y-derived Sxr fragment so XOSxr germ cells enter meiosis normally. An Sxr derivative, Sxr′, which has lost the capacity to produce H-Y antigen, has also lost the Spy function, raising the possibility that H-Y antigen is the mediator of Spy activity. The Y is next required in the male germ line during meiotic prophase, when it provides a pairing partner for the X chromosome. If the X (or, indeed, the Y when present) remains unpaired, there are severe spermatogenic losses and the second meiotic division is frequently omitted, leading to the formation of diploid spermatids. Spermatogenesis in XOSxr males is affected in this way and the few sperm produced are morphologically abnormal. These sperm abnormalities could also be a consequence of the X univalence, but there is some evidence suggesting that there is another gene on the Y, lacking in Sxr, which is involved in sperm morphogenesis.

Download Full-text