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The Human Y Chromosome: The Biological Role of a "Functional Wasteland"

Quintana-Murci L, Fellous M - J. Biomed. Biotechnol. (2001)

Bottom Line: Thus, mammalian embryos with a Y chromosome develop testes, while those without it develop ovaries (Polani, 1981).What is responsible for the male phenotype is the testis-determining SRY gene (Sinclair, 1990) 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, 1997).

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ABSTRACT
"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, 1981). What is responsible for the male phenotype is the testis-determining SRY gene (Sinclair, 1990) 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, 1997). This paper reviews the structure and the biological functions of this peculiar chromosome.

No MeSH data available.


Related in: MedlinePlus

Schematic representation of the Y chromosome. Genes inthe two pseudoautosomal regions (PAR1 and PAR2) as well as thosein the nonrecombining Y region (NRY) areillustrated.
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Figure 1: Schematic representation of the Y chromosome. Genes inthe two pseudoautosomal regions (PAR1 and PAR2) as well as thosein the nonrecombining Y region (NRY) areillustrated.

Mentions: The Y is one of the smallest chromosomes in the human genome(∼ 60 Mb) and represent around 2%–3% of a haploidgenome. Cytogenetic observations based on chromosome-bandingstudies allowed different Y regions to be identified: thepseudoautosomal portion (divided into two regions: PAR1 and PAR2)and the euchromatic and heterochromatic regions(Figure 1).


The Human Y Chromosome: The Biological Role of a "Functional Wasteland"

Quintana-Murci L, Fellous M - J. Biomed. Biotechnol. (2001)

Schematic representation of the Y chromosome. Genes inthe two pseudoautosomal regions (PAR1 and PAR2) as well as thosein the nonrecombining Y region (NRY) areillustrated.
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC79676&req=5

Figure 1: Schematic representation of the Y chromosome. Genes inthe two pseudoautosomal regions (PAR1 and PAR2) as well as thosein the nonrecombining Y region (NRY) areillustrated.
Mentions: The Y is one of the smallest chromosomes in the human genome(∼ 60 Mb) and represent around 2%–3% of a haploidgenome. Cytogenetic observations based on chromosome-bandingstudies allowed different Y regions to be identified: thepseudoautosomal portion (divided into two regions: PAR1 and PAR2)and the euchromatic and heterochromatic regions(Figure 1).

Bottom Line: Thus, mammalian embryos with a Y chromosome develop testes, while those without it develop ovaries (Polani, 1981).What is responsible for the male phenotype is the testis-determining SRY gene (Sinclair, 1990) 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, 1997).

View Article: PubMed Central - HTML - PubMed

ABSTRACT
"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, 1981). What is responsible for the male phenotype is the testis-determining SRY gene (Sinclair, 1990) 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, 1997). This paper reviews the structure and the biological functions of this peculiar chromosome.

No MeSH data available.


Related in: MedlinePlus