Pseudogenes and their potential functions in hematopoiesis.

Pseudogenes are DNA regions comprising defective copies of functional genes, the majority of which were generated by RNA- or DNA-level duplications. They exist across almost all forms of life and account for about one-quarter of the annotated genes in the human genome. Although these have been considered nonfunctional for decades, a growing number of pseudogenes have been found to be transcribed and to play crucial regulatory roles. Accumulating evidence indicates that they regulate gene expression through molecular interactions at the protein, RNA, and DNA levels. However, pseudogenes are often excluded in multiple genomewide analyses and functional screening, and their biological activities remain to be systematically disclosed. Here, we summarize the features of and progress of research on pseudogenes, in addition to discussing what is unknown about these genetic elements. Our previous findings, together with evidence of their poor conservation, prompted us to propose that pseudogenes may contribute to primate- or human-specific regulation, especially in hematopoiesis.

Genome-wide analysis of pseudogenes reveals HBBP1's human-specific essentiality in erythropoiesis and implication in ß-thalassemia.

The human genome harbors 14,000 duplicated or retroposed pseudogenes. Given their functionality as regulatory RNAs and low conservation, we hypothesized that pseudogenes could shape human-specific phenotypes. To test this, we performed co-expression analyses and found that pseudogene exhibited tissue-specific expression, especially in the bone marrow. By incorporating genetic data, we identified a bone-marrow-specific duplicated pseudogene, HBBP1 (η-globin), which has been implicated in ß-thalassemia. Extensive functional assays demonstrated that HBBP1 is essential for erythropoiesis by binding the RNA-binding protein (RBP), HNRNPA1, to upregulate TAL1, a key regulator of erythropoiesis. The HBBP1/TAL1 interaction contributes to a milder symptom in ß-thalassemia patients. Comparative studies further indicated that the HBBP1/TAL1 interaction is human-specific. Genome-wide analyses showed that duplicated pseudogenes are often bound by RBPs and less commonly bound by microRNAs compared with retropseudogenes. Taken together, we not only demonstrate that pseudogenes can drive human evolution but also provide insights on their functional landscapes.

[Risk factors of breast cancer in women in Guangdong and the countermeasures].

OBJECTIVE: To screen high-risk population of breast cancer by analyzing the risk factors of breast cancer in Guangdong Province. METHODS: A case-control study was performed to identify the risk factors of breast cancer between premenopausal women and postmenopausal women. Chi-square test and unconditional logistic regression were used to analyze the data. RESULTS: In premenopausal women, prophylactic, family history of breast cancer, bad mood, bad life incidence and work load were the risk factors, and breast hyperplasia history, breast tissue examination history, regular exercise and sleeping without bra were the protective factors. In postmenopausal women, family history of breast cancer was the risk factor, and breast hyperplasia history and mood adjustment were the protective factors. CONCLUSION: The risk and protective factors of breast cancer differ between premenopausal and postmenopausal women, which highlights the importance of using different risk models to screen the high-risk populations.