Y linkage, also known as holandric inheritance, describes traits that are produced by genes located on the Y chromosome. It is a form of sex linkage.
Azoospermia is the medical condition of a man whose semen contains no sperm. It is associated with male infertility, but many forms are amenable to medical treatment. In humans, azoospermia affects about 1% of the male population and may be seen in up to 20% of male infertility situations in Canada.
Terms oligospermia, oligozoospermia, and low sperm count refer to semen with a low concentration of sperm and is a common finding in male infertility. Often semen with a decreased sperm concentration may also show significant abnormalities in sperm morphology and motility. There has been interest in replacing the descriptive terms used in semen analysis with more quantitative information.
Y chromosome microdeletion(YCM) is a family of genetic disorders caused by missing genes in the Y chromosome. Many men with YCM exhibit no symptoms and lead normal lives. It is present in a significant number of men with reduced fertility. Reduced sperm production varies from oligozoospermia, significant lack of sperm, or azoospermia, complete lack of sperm.
Azoospermia factor (AZF) is one of several proteins or their genes, which are coded from the AZF region on the human male Y chromosome. Deletions in this region are associated with inability to produce sperm. Subregions within the AZF region are AZFa, AZFb and AZFc. AZF microdeletions are one of the major causes of male infertility for azoospermia and severe oligozoospermia males. AZF is the term used by the HUGO Gene Nomenclature Committee.
G-protein coupled receptor 143, also known as Ocular albinism type 1 (OA1) in humans, is a conserved integral membrane protein with seven transmembrane domains and similarities with G protein-coupled receptors (GPCRs) that is expressed in the eye and epidermal melanocytes. This protein encoded by the GPR143 gene, whose variants can lead to Ocular albinism type 1.
Sertoli cell-only syndrome is a disorder characterized by male sterility without sexual abnormality. It describes a condition of the testes in which only Sertoli cells line is present in seminiferous tubules.
Deleted in azoospermia 1, also known as DAZ1, is a protein which in humans is encoded by the DAZ1 gene.
Small nuclear ribonucleoprotein-associated protein N is a protein that in humans is encoded by the SNRPN gene.
Deleted in azoospermia protein 3 is a protein that in humans is encoded by the DAZ3 gene.
Deleted in azoospermia protein 2 is a protein that in humans is encoded by the DAZ2 gene.
RNA-binding motif protein, Y chromosome, family 1 member A1/C is a protein that in humans is encoded by the RBMY1A1 gene.
Outer dense fiber protein 1 is a protein that in humans is encoded by the ODF1 gene.
Testis-specific chromodomain protein Y 1 is a protein that in humans is encoded by the CDY1 gene.
Sperm-associated antigen 8 is a protein that in humans is encoded by the SPAG8 gene.
Lysine-specific demethylase 6A also known as Ubiquitously transcribed tetratricopeptide repeat, X chromosome (UTX), is a protein which in humans is encoded by the KDM6A gene. It belongs to the 2-oxoglutarate (2OG)-dependent dioxygenase superfamily.
Outer dense fiber protein 2, also known as cenexin, is a protein that in humans is encoded by the ODF2 gene.
Testis-specific basic protein Y 2 also known as basic charge, Y-linked 2 is a protein that in humans is encoded by the BPY2 gene which resides on the Y chromosome.
DECIPHER is a web-based resource and database of genomic variation data from analysis of patient DNA. It documents submicroscopic chromosome abnormalities and pathogenic sequence variants, from over 25000 patients and maps them to the human genome using Ensembl or UCSC Genome Browser. In addition it catalogues the clinical characteristics from each patient and maintains a database of microdeletion/duplication syndromes, together with links to relevant scientific reports and support groups.
Mild androgen insensitivity syndrome (MAIS) is a condition that results in a mild impairment of the cell's ability to respond to androgens. The degree of impairment is sufficient to impair spermatogenesis and / or the development of secondary sexual characteristics at puberty in males, but does not affect genital differentiation or development. Female genital and sexual development is not significantly affected by the insensitivity to androgens; as such, MAIS is only diagnosed in males. The clinical phenotype associated with MAIS is a normal male habitus with mild spermatogenic defect and / or reduced secondary terminal hair.
