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New undesirable genetic factor identified in Jersey breed

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A new undesirable genetic factor, known as Jersey Neuropathy with Splayed Forelimbs (JNS), has been identified in the Jersey breed, according to the American Jersey Cattle Assn. (AJCA). The AJCA board of directors was made aware and discussed the results of the investigation at the November board meetings in Louisville, Ky.

Calves affected with JNS are unable to stand on splayed forelimbs that exhibit significant extensor rigidity and/or excessive lateral abduction at birth, AJCA said. Affected calves are generally bright at birth but exhibit neurologic symptoms, including spasticity of head and neck and convulsive behavior. Other symptoms reported include dislocated shoulders, congenital craniofacial anomalies and degenerative myelopathy.

According to AJCA, JNS is attributable to a specific haplotype on Bos taurus autosome 6 (BTA6) of genotyped Jerseys, and fewer than 6% of the genotyped Jersey population are carriers of the haplotype, meaning 94% of the genotyped population is free of the JNS haplotype.

The official JNS haplotype status was reported to AJCA by the Council on Dairy Cattle Breeding (CDCB), which will incorporate the JNS haplotype status into its standard data formats provided to industry cooperators after Jan. 1, 2021.

On Nov. 20, AJCA updated the animal database with the carriers identified by CDCB through genotyping. As required by AJCA policy, breeders, owners and lessees will receive notification of designated carriers of JNS. AJCA staff has started the process of contacting individuals affected by the animals identified with the JNS haplotype. A complete list of carrier bulls, with corresponding NAAB codes, will be included in the …

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Loyal couples in the rainforest

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Since methods for genetic paternity analyses were introduced it became clear that many pair-living animal species, including humans, do not take partnership fidelity that seriously. In most species there is some proportion of offspring that is not sired by their social father. Coppery titi monkeys living in the Amazon lowland rainforest seem to be an exception. Scientists from the German Primate Center (DPZ) – Leibniz Institute for Primate Research in Göttingen could not find evidence for extra-pair paternity in their study population in Peru. Mate choice seems to be so successful that a potential genetic advantage does not outweigh the social costs of infidelity (Scientific Reports).
Offspring resulting from extra-pair copulations but raised by the social partner are surprisingly common in pair-living species. Various reasons are discussed for this behavior. For instance, mate choice is often limited and sometimes it only turns out later that the chosen partner is not the genetically best one. In order to ensure the best possible genes for your own children, you may use the genes of a neighbor or a floating male without giving up the security of your own territory and the caring social father.
Coppery titi monkeys live in small family-groups, consisting of male, female and offspring, who defend a territory. Usually, a single infant is born per year, that leaves the group when it reaches sexual maturity or shortly after and searches a partner, with whom it occupies an own territory. The pair-partners maintain a strong relationship, spend day and …

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The genetic law of the minimum

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How organisms are optimized in the face of environmental challenges remains one of the key unanswered questions in biology. The optimization of enzymes for changing nutrient concentrations in an organism’s environment is well known ([ 1 ][1]). However, intricate genomics studies have revealed that optimization might affect the architecture of the entire genome ([ 2 ][2]). On page 683 of this issue, Shenhav and Zeevi ([ 3 ][3]) illuminate how selection driven by resource scarcity can affect the evolution of nucleotide and protein sequences in marine microbes. In extremely nutrient-scarce regions of the ocean, microbial genomes are often small and streamlined, containing only the most essential genetic information ([ 4 ][4]). However, the essential selective factor often is not the absolute concentration of a single nutrient but rather its ratio with other required nutrients ([ 5 ][5]). For example, the sunlit ocean surface is typically limited in nitrogen but not organic carbon, because photosynthetic organisms require much of the former but produce copious amounts of the latter. When biomass from this surface layer dies and sinks, it is degraded by heterotrophic bacteria, which, because of the stoichiometry of elements in their food versus their cells, shift the balance toward carbon limitation ([ 6 ][6], [ 7 ][7]). Recent work has shown that this transition from nitrogen to carbon limitation provides an explanation for an abrupt shift in the guanine-cytosine (GC) content in the genomes of marine microbes at the ocean surface versus those in the deep ocean ([ 8 ][8], [ 9 ][9]). Organisms living under consistent nitrogen limitation have a low GC content in their genomes, leading to a lower nitrogen demand for DNA synthesis. These organisms …

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Upcoming DCHA Webinar: Genetic Focus: Creating the Most Valuable Calves Across the Dairy Herd

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The information below has been supplied by dairy marketers and other industry organizations. It has not been edited, verified or endorsed by Hoard’s Dairyman. Maximizing and cultivating the right genetics from your herd is no easy feat, particularly in our shifting and consolidating dairy market. As we strive to improve the efficiency and profitability of our dairy herd, it’s more important than ever to assess opportunities to tie in a quality beef solution on our lower genetic animals. Let’s take a closer look at the impact of using a differentiated beef-on-dairy program to drive profitability and give thought to its place in a high-caliber genetic strategy.Please join us Thursday, December 3, 2020, at 2:00 p.m. Central time.Our presenters are:·Matthew Cleveland, director, Global Beef Product Development, ABS·Brandon Sowder, director, North American Business Development-Beef InFocus, ABS·Samantha Wilson, North America Beef InFocus & NuEra Genetics Brand Manager, ABS

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New undesirable genetic factor ID’d in Jersey breed

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REYNOLDSBURG, Ohio – A new undesirable genetic factor, known as Jersey Neuropathy with Splayed Forelimbs (JNS), has been identified in the Jersey breed. The American Jersey Cattle Association (AJCA) board of directors were made aware and discussed the results of the investigation at the November board meetings in Louisville, Ky.Calves affected with JNS are unable to stand on splayed forelimbs that exhibit significant extensor rigidity and/or excessive lateral abduction at birth. Affected calves are generally bright at birth but exhibit neurologic symptoms including spasticity of head and neck and convulsive behavior. Other symptoms reported include dislocated shoulders, congenital craniofacial anomalies and degenerative myelopathy. JNS is attributable to a specific haplotype on Bos taurus autosome 6 (BTA6) of genotyped Jerseys.Less than 6% of the genotyped Jersey population are carriers of the haplotype, meaning 94% of the genotyped population is Free of the JNS haplotype.The official JNS haplotype status is reported to AJCA by the Council on Dairy Cattle Breeding (CDCB). The CDCB will incorporate the JNS haplotype status into their standard data formats that are provided to industry cooperators after January 1, 2021.On November 20, the AJCA updated the animal database with the carriers identified by CDCB through genotyping. As required by AJCA policy, breeders, owners and lessees will receive notification of designated carriers of JNS. AJCA staff has started the process of contacting individuals impacted by the animals identified with the JNS haplotype. A complete list of carrier bulls, with corresponding NAAB codes, will be included in the Green Book as soon …

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When it comes to COVID, nurture trumps nature

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In the early weeks of the pandemic, as patients overwhelmed New York City hospitals, the clinical characteristics of the most vulnerable quickly became apparent: many of the sickest people were older or had “co-morbidities” like diabetes, hypertension, or respiratory conditions.As weeks became months and the symptom spectrum widened and worsened, researchers began to focus on “host risk factors” to explain the increasingly apparent variability in the COVID-19 experience. According to Jack Kosmicki, PhD, of Regeneron Genetics Center, at the recent American Society of Human Genetics virtual annual meeting:
Genetics is one avenue to better understand why outcomes of COVID are so different. Some patients have so few symptoms that they don’t realize they’re infected, yet the other end of the extreme is requiring hospitalization, or death. Genetic risk factors might influence the likelihood of becoming infected or requiring hospitalization.
So far, very few genes have been linked to COVID-19. Other factors like socioeconomic status, exposure to the virus in the workplace or in crowded housing conditions, being of Black or Asian ancestry and non-genetic pre-existing conditions are more important.
But genetic differences may provide more subtle information, such as accounting for the wildly different and nuanced ways that the new infectious disease unfolds. Perhaps genetic distinctions may explain why some people recover quickly and others become long-haulers, or why some succumb to overwhelming immune responses and others effectively fight off the virus without overdoing it.
Several presentations at the genetics conference converged on a few genome regions …

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An international telemedicine program for diagnosis of genetic disorders: Partnership of pediatrician and geneticist

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This article was originally published here
Am J Med Genet C Semin Med Genet. 2020 Nov 21. doi: 10.1002/ajmg.c.31859. Online ahead of print.

ABSTRACT
There is a shortage of genetics providers worldwide and access is limited to large academic centers. Telemedicine programs can facilitate access to genetic services to patients living in remote locations. The goal of this study was to improve access to genetic services in the Dominican Republic by creating a partnership model between a pediatrician and geneticist. This approach has been used within the United States but not in the setting of two different countries, healthcare system, and cultures. Patients were referred to the Centro de Obstetricia y Ginecologia program if a syndromic or genetic etiology was suspected by their local provider. Pediatrician first evaluated all patients prior to telemedicine appointment to review family and medical history. All genetic visits were scheduled within 2 weeks of referral in collaboration with telehealth program at Cincinnati Children’s Hospital Medical Center. A total of 66 individuals were evaluated during a period of 5 years. Fifty-seven individuals underwent genetic studies, and a molecular diagnosis was made in 39 individuals. Exome sequencing was the most common first line test when differential diagnosis was broad (n = 40). The most common inheritance was autosomal recessive in 15 individuals, followed by 13 individuals with autosomal dominant disorders, 7 individuals X-linked disorders, and 4 individuals with chromosomal abnormalities. This study provides data to support utility of geneticist and pediatrician partnership to provide outreach telemedicine diagnostics and management services for rare diseases in an international setting.

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Major new study unveils complexity and vast diversity of Africa’s genetic variation

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Africa is the cradle of humankind. All humans are descendants from this common pool of ancestors. Africa and its multitude of ethnolinguistic groups are therefore fundamental to learning more about humankind and our origins.

A human genome refers to the complete set of genetic information found in a human cell. We inherit our genomes from our parents. Studying the variations in different people’s genomes gives important clues to how genetic information influences people’s appearance and health. It can also tell us about our ancestry. To date, very few African individuals have been included in studies looking at genetic variation. Studying African genomes not only fills a gap in the current understanding of human genetic variation, but also reveals new insights into the history of African populations.

My colleagues and I, who are all members of the Human Heredity and Health (H3Africa) consortium, contributed to a landmark genetics study. This study focused on 426 individuals from 13 African countries. More than 50 different ethnolinguistic groups were represented in the study – one of the most diverse groups of Africans ever to be included in such an investigation. We sequenced the whole genome of each of these individuals – this means we could read every part of the genome to look for variation.

This study contributes a major, new source of African genomic data, which showcases the complex and vast diversity of African genetic variation. And it will support research for decades to come.

Our findings have broad relevance, from learning more about African …

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Drug to treat genetic disorder that causes rapid aging in kids

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A new drug to treat a rare genetic disorder that causes rapid aging in children has been approved after clinical studies showed promising results in extending their lives.
Zokinvy, the first drug of its kind to treat the genetic mutation known as progeria that also stunts growth, was approved by the US Food and Drug Administration this week. In clinical tests, the drug was found to increase patients’ lives by more than two years.
There are an estimated 400 people around the world and 20 in the US who suffer from the condition which causes hair loss and aged-looking skin. Children afflicted with the disease suffer strokes and hardening of arteries and typically die at 14.
The disorder is not inherited but due to a chance gene mutation that causes a damaging buildup in cells of a protein called progeria,
Research on the treatment was mainly funded by the Progeria Research Foundation in Peabody, Mass., with help from drug developer Eiger BioPharmaceuticals.

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