Talk:Genetics - Chromosome 13

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On this website the Discussion Tab or "talk pages" for a topic has been used for several purposes: References - recent and historic that relates to the topic Additional topic information - currently prepared in draft format Links - to related webpages Topic page - an edit history as used on other Wiki sites Lecture/Practical - student feedback Student Projects - online project discussions. Links: Pubmed Most Recent | Reference Tutorial | Journal Searches Glossary Links Glossary: A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z | Numbers | Symbols | Term Link Cite this page: Hill, M.A. (2024, April 19) Embryology Genetics - Chromosome 13. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Talk:Genetics_-_Chromosome_13

2020

Liu Y, Chen X, Gong Z, Zhang H, Fei F, Tang X, Wang J, Xu P, Zarbl H & Ren X. (2019). Fry Is Required for Mammary Gland Development During Pregnant Periods and Affects the Morphology and Growth of Breast Cancer Cells. Front Oncol , 9, 1279. PMID: 31824855 DOI.

Fry Is Required for Mammary Gland Development During Pregnant Periods and Affects the Morphology and Growth of Breast Cancer Cells.

Abstract The Fry gene, located on chromosome 13, is an evolutionarily conserved large protein from yeast to human. Our previous study genetically linked the Fry gene with differential susceptibility to mammary carcinogenesis, but whether Fry affects mammary gland development and function, as well as the growth of breast cancer cells, is largely unknown. To define the consequences of Fry loss in the mammary glands, we have generated mice conditionally deficient of the Fry gene in the mammary glands using the Cre-loxP recombination system. We examined multiple phenotypes with male and female homozygous Fry conditional knockout mice (Mfry) and control mice (WT), including body weight, preliminary observations (health and neurological flexes), open field locomotion, sensory abilities, auditory threshold, and glucose metabolism. The loss of Fry in the mammary glands didn't cause a significant difference in these genotypes between Mfry and WT mice. However, our data showed that Fry was required during pregnancy, while it was functionally dispensable in virgin mammary gland development. Loss of Fry led to more lateral buds, and the lobuloalveoli were smaller and showed undistended morphology in mammary glands during late pregnancy. in vitro experiment, ectopic expression of FRY could alter the morphology and significantly suppress the growth and proliferation of the breast cancer cell lines, MDA-MB-231 (ER-/PR-/HER2-, Basal-like) and BT474 (ER+/PR+/HER2+, Luminal B). The following genome-wide transcriptomic analysis of these cells suggested that FRY interacted with protein kinases relevant signaling pathways and induced massive changes in gene expression, including the activation of the Hippo/Yap pathway. Together, our data suggest that the FRY is required for mammary glands developments during pregnant periods, and affects breast cancer cell growth and proliferation. Copyright © 2019 Liu, Chen, Gong, Zhang, Fei, Tang, Wang, Xu, Zarbl and Ren.

KEYWORDS: Fry gene; Hippo/Yap signaling pathway; cancer cell growth; conditional knockout mice; mammary gland development PMID: 31824855 PMCID: PMC6881260 DOI: 10.3389/fonc.2019.01279

Int J Gynecol Cancer. 2020 Jan;30(1):83-88. doi: 10.1136/ijgc-2019-000626. Epub 2019 Nov 27. Assessment of ovarian reserve and reproductive outcomes in BRCA1 or BRCA2 mutation carriers.

Ponce J1, Fernandez-Gonzalez S2, Calvo I1, Climent M1, Peñafiel J3, Feliubadaló L4, Teulé A4, Lázaro C4, Brunet JM4,5, Candás-Estébanez B6, Durán Retamal M7. Author information 1 Gynecology, Hospital Universitari de Bellvitge, L'Hospitalet de Llobregat, Barcelona, Spain. 2 Gynecology, Hospital Universitari de Bellvitge, L'Hospitalet de Llobregat, Barcelona, Spain sergi.sfg@gmail.com. 3 Biostatistics Unit, Hospital Universitari de Bellvitge, L'Hospitalet de Llobregat, Barcelona, Spain. 4 Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Barcelona, Spain. 5 Hereditary Cancer Program, Catalan Institute of Oncology, IDIBGI, Girona, Spain. 6 Clinical Laboratory, Hospital Universitari de Bellvitge, L'Hospitalet de Llobregat, Barcelona, Spain. 7 Centre for Reproductive and Genetic Health, London, UK. Abstract INTRODUCTION: The clinical impact on fertility in carriers of BRCA1 and BRCA2 mutations remains unclear. The aim of this study was to assess ovarian reserve as measured by anti-mullerian hormone levels in BRCA1 or BRCA2 mutation carriers, as well as to investigate the impact of anti-mullerian hormone levels on reproductive outcomes. METHODS: The study involved a cohort of women who tested positive for BRCA1 and BRCA2 screening or were tested for a BRCA1 or BRCA2 family mutation. Blood samples were collected for anti-mullerian hormone analysis and the reproductive outcomes were analyzed after a mean follow-up of 9 years. Participants were classified into BRCA mutation-positive versus BRCA mutation-negative. Controls were healthy relatives who tested negative for the family mutation. All patients were contacted by telephone to collect data on reproductive outcomes. Linear regression was used to predict anti-mullerian hormone levels by BRCA status adjusted for a polynomial form of age. RESULTS: Results of anti-mullerian hormone analysis and reproductive outcomes were available for 135 women (BRCA mutation-negative, n=66; BRCA1 mutation-positive, n=32; BRCA2 mutation-positive, n=37). Anti-mullerian hormone curves according to BRCA status and adjusted by age showed that BRCA2 mutation-positive patients have lower levels of anti-mullerian hormone as compared with BRCA-negative and BRCA1 mutation-positive. Among the women who tried to conceive, infertility was observed in 18.7% of BRCA mutation-negative women, in 22.2% of BRCA1 mutation-positive women, and in 30.8% of BRCA2 mutation-positive women (p=0.499). In the multivariable analysis, there were no factors independently associated with infertility. DISCUSSION: BRCA2 mutation-positive carriers showed more diminished anti-mullerian hormone levels than BRCA1 mutation-positive and BRCA mutation-negative women. However, these differences do not appear to have a negative impact on reproductive outcome. This is important to consider at the time of reproductive counseling in women with BRCA1 or BRCA2 mutations. © IGCS and ESGO 2020. No commercial re-use. See rights and permissions. Published by BMJ.

KEYWORDS: BCRA1 ; BCRA2 ; anti-Müllerian hormone; fertility; ovarian reserve; reproduction PMID: 31780568 DOI: 10.1136/ijgc-2019-000626

2018

Cytogenet Genome Res. 2017;153(4):175-180. doi: 10.1159/000486775. Epub 2018 Mar 9. Two Cases with Ring Chromosome 13 at either End of the Phenotypic Spectrum. Çakmaklı S1, Çankaya T, Gürsoy S, Koç A, Kırbıyık Ö, Kılıçarslan ÖA, Özer E, Erçal D, Bozkaya ÖG. Author information Abstract Ring chromosome 13 is a rare genetic condition with an incidence of 1/58,000 in live births. Major clinical features of patients with ring chromosome 13 include growth and developmental retardation, microcephaly, facial dysmorphism, ambiguous genitalia, anal atresia, eye malformations, retinoblastoma, and hand, foot, and toe abnormalities. The severity of the phenotype depends on the amount of genetic material lost during ring chromosome formation. Here, we report 2 cases with ring chromosome 13 at either end of the phenotypic spectrum. KEYWORDS: Ambiguous genitalia; Chromosome 13; Microarray; Ring chromosome PMID: 29518772 DOI: 10.1159/000486775