A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk

Article Abstract:

A study is carried out to identify the common variants that contribute for the genesis of Hirschsprung disease (HSCR), a multifactorial, non-mendelian disorder. The study shows that a common non-coding RET variant within a conserved enhancer-like sequence in intron 1 is significantly associated with HSCR susceptibility and makes a 20-fold greater contribution to risk than alleles do.

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Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome

Article Abstract:

The dominant-negative mutations in the human signal transducer and activator of transcription 3 (STAT3) gene have resulted in the classical multisystem hyper-immunoglobulin E syndrome (HIES). The results have highlighted the multiple roles played by STAT3 in humans and have shown the critical involvement of multiple cytokine pathways in the pathogenesis of HIES.

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A hold on plant meiosis

Article Abstract:

The omission of meiotic recombination is promoted by a special mutation called dyad in the plant Arabidopsis. The mutation is found to be extremely effective in turning the plant meiosis on and off according to its requirements.

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