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At least three alternatively spliced transcript variants encoding distinct isoforms of PRC1 have been observed. [6] Additionally, PRC1 has sequence homology with Ase1 in yeasts, SPD-1 (spindle defective 1) in C. elegans , Feo in D. melanogaster , and MAP65 in plants, all of which fall in a conserved family of nonmotor microtubule-associated ...
•List of human protein-coding genes page 2 covers genes EPHA1–MTMR3 •List of human protein-coding genes page 3 covers genes MTMR4–SLC17A7 •List of human protein-coding genes page 4 covers genes SLC17A8–ZZZ3 NB: Each list page contains 5000 human protein-coding genes, sorted alphanumerically by the HGNC-approved gene symbol.
[1] [2] Both loss and gain-of-function mutations in PRC2 components have been identified in various human cancers, suggesting complex roles of these components in malignancy. [5] Polycomb group genes directly and indirectly regulate the DNA damage response which acts as an anti-cancer barrier. [5]
The first genome to be sequenced was that of the virus φX174 in 1977; [4] the first genome sequence of a prokaryote (Haemophilus influenzae) was published in 1995; [5] the yeast (Saccharomyces cerevisiae) genome was the first eukaryotic genome to be sequenced in 1996. [6]
PAR1 comprises 2.6 Mbp of the short-arm tips of both X and Y chromosomes in humans and great apes (X and Y are 154 Mbp and 62 Mbp in total). PAR2 is at the tips of the long arms, spanning 320 kbp. [5] The monotremes, including the platypus and echidna, have a multiple sex chromosome system, and consequently have 8 pseudoautosomal regions. [6]
46,XX/46,XY chimeric or mosaic is associated with a wide spectrum of different physical presentations, with cases ranging from having a completely normal male or female phenotype [7] [8] [9] to some cases having ovotesticular syndrome. Due to this variation, genetic testing is the only way to reliably make a diagnosis.
XX gonadal dysgenesis is a type of female hypogonadism in which the ovaries do not function to induce puberty in a person assigned female at birth, whose karyotype is 46,XX. [1] Individuals with XX gonadal dysgenesis have normal-appearing external genitalia as well as Müllerian structures (e.g., cervix, vagina, uterus).
CD46 complement regulatory protein also known as CD46 (cluster of differentiation 46) and Membrane Cofactor Protein is a protein which in humans is encoded by the CD46 gene. [5] CD46 is an inhibitory complement receptor. [6]