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Cards In This Set
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In immunology, which genes are involved in self-recognition? Synthesis of antibodies?
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-HLA genes are involved in self-recogntion
-Ig genes are invovled in the synthesis of antibodies
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What genes are included in Class I HLA genes? where are they located?
What genes comprise Class II HLA genes? Where are they located?
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Class 1 HLA genes include HLA-A, -B, and -C and are located on nucleated cells
Class 2 HLA genes include HLA-DR, -DQ, and -DP genes which are found on B cells, macrophages, and dendritic cells
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What is the significance of HLA- DR genes?
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They are involved in tissue matching
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What type of DNA change is involved in the rearrangement of Ig genes in B cells?
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Somatic DNA change not germline
Alternative splicing gives different Igs
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What is the pseudoautosomal region?
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The pseudoautosomal region is an area on the X chromosome where there is autosomal inheritance
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What is the SRY gene and where is it located?
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The SRY gene is the gene essential for male differentiation and is located on the border of the X-linked and psedoautosomal region on the Y chromosome
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Basicall, what is the function of the SRY gene?
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Formation of the testes
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What is androgen insensitivity/ Testicular Feminisation (TFM) as well as its MOI?
What happens in a complete loss of function vs. partial loss of function
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TFM is an X-linked disorder due to a mutation in the gene for the androgen receptor causing reduced response to testosterone
-In a complete loss of function, it results in complete male to female sex reversal but in a partial loss of function, there is pseudohermaphroditism.
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Explain the dosage compensation theory
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It states that because males and females developmental processes are nearly identical, there is some form of dosage compensation.
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Describe the X-inactivation process
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According to the X-inactivation process, in females, there is 1 active X and 1 inactive X in the oogonia. In the early zygote, both Xs are reactivated and then one is deactivated
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What does the random inactivation of the maternal or paternal X in different chromosomes result in?
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Mosaicism
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What is an example of X inactivation as well as its MOI?
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X-linked ocular albinism resulting in a mosaic pattern of retinal pigmentation
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Is the PAR subject to inactivation?
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No
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Are all female mammals mosaic?
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Yes
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What are X-inactivation Centres?
What is XIST? how does it function?
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-Genes which are responsible inactivating X chromosomes
-X inactivation specific transcript (XIST) is what is formed from the XIC genes where
-XIST functions as an mRNA where it coats the inactivated X chromosome and turns it into heterogeneous DNA except the pseudoautosomal region
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